1. Adams, P., Falek, A., Arnold, J. Huntington disease in Georgia: age at onset. Am. J. Hum. Genet. 43: 695-704, 1988. [PubMed: 2973230]

  2. Almqvist, E., Adam, S., Bloch, M., Fuller, A., Welch, P., Eisenberg, D., Whelan, D., Macgregor, D., Meschino, W., Hayden, M. R. Risk reversals in predictive testing for Huntington disease. Am. J. Hum. Genet. 61: 945-952, 1997. [PubMed: 9382108] [Full Text: https://doi.org/10.1086/514873]

  3. Almqvist, E., Andrew, S., Theilmann, J., Goldberg, P., Zeisler, J., Drugge, U., Grandell, U., Tapper-Persson, M., Winblad, B., Hayden, M., Anvret, M. Geographical distribution of haplotypes in Swedish families with Huntington's disease. Hum. Genet. 94: 124-128, 1994. [PubMed: 8045558] [Full Text: https://doi.org/10.1007/BF00202856]

  4. Almqvist, E. W., Elterman, D. S., MacLeod, P. M., Hayden, M. R. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin. Genet. 60: 198-205, 2001. [PubMed: 11595021] [Full Text: https://doi.org/10.1034/j.1399-0004.2001.600305.x]

  5. Ambrose, C. M., Duyao, M. P., Barnes, G., Bates, G. P., Lin, C. S., Srinidhi, J., Baxendale, S., Hummerich, H., Lehrach, H., Altherr, M., Wasmuth, J., Buckler, A., Church, D., Housman, D., Berks, M., Micklem, G., Durbin, R., Dodge, A., Read, A., Gusella, J., MacDonald, M. E. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat. Cell Molec. Genet. 20: 27-38, 1994. [PubMed: 8197474] [Full Text: https://doi.org/10.1007/BF02257483]

  6. Andresen, J. M., Gayan, J., Cherny, S. S., Brocklebank, D., Alkorta-Aranburu, G., Addis, E. A., The US-Venezuela Collaborative Research Group, Cardon, L. R., Housman, D. E., Wexler, N. S. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J. Med. Genet. 44: 44-50, 2007. [PubMed: 17018562] [Full Text: https://doi.org/10.1136/jmg.2006.045153]

  7. Andrew, S. E., Goldberg, Y. P., Kremer, B., Squitieri, F., Theilmann, J., Zeisler, J., Telenius, H., Adam, S., Almquist, E., Anvret, M., Lucotte, G., Stoessl, A. J., Campanella, G., Hayden, M. R. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am. J. Hum. Genet. 54: 852-863, 1994. [PubMed: 8178825]

  8. Andrew, S. E., Goldberg, Y. P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M. A., Graham, R. K., Hayden, M. R. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 4: 398-403, 1993. [PubMed: 8401589] [Full Text: https://doi.org/10.1038/ng0893-398]

  9. Arning, L., Saft, C., Wieczorek, S., Andrich, J., Kraus, P. H., Epplen, J. T. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. Hum. Genet. 122: 175-182, 2007. [PubMed: 17569088] [Full Text: https://doi.org/10.1007/s00439-007-0393-4]

  10. Aronin, N., Chase, K., Young, C., Sapp, E., Schwarz, C., Matta, N., Kornreich, R., Landwehrmeyer, B., Bird, E., Beal, M. F., Vonsattel, J.-P., Smith, T., Carraway, R., Boyce, F. M., Young, A. B., Penney, J. B., DiFiglia, M. CAG expansion affects the expression of mutant huntingtin in Huntington's disease brain. Neuron 15: 1193-1201, 1995. [PubMed: 7576661] [Full Text: https://doi.org/10.1016/0896-6273(95)90106-x]

  11. Arrasate, M., Mitra, S., Schweitzer, E. S., Segal, M. R., Finkbeiner, S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 431: 805-810, 2004. [PubMed: 15483602] [Full Text: https://doi.org/10.1038/nature02998]

  12. Auerbach, W., Hurlbert, M. S., Hilditch-Maguire, P., Wadghiri, Y. Z., Wheeler, V. C., Cohen, S. I., Joyner, A. L., MacDonald, M. E., Turbull, D. H. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum. Molec. Genet. 10: 2515-2523, 2001. [PubMed: 11709539] [Full Text: https://doi.org/10.1093/hmg/10.22.2515]

  13. Aziz, N. A., Jurgens, C. K., Landwehrmeyer, G. B., van Roon-Mom, W. M. C., van Ommen, G. J. B., Stijnen, T., Roos, R. A. C. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology 73: 1280-1285, 2009. Note: Erratum: Neurology 73: 1608 only, 2009; Erratum: Neurology 76: 202 only, 2011. [PubMed: 19776381] [Full Text: https://doi.org/10.1212/WNL.0b013e3181bd1121]

  14. Aziz, N. A., Roos, R. A., Gusella, J. F., Lee, J. M., Macdonald, M. E. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. (Letter) Neurology 79: 952, 2012. Note: Author Reply: Neurology 79: 952-3, 2012. [PubMed: 22927682] [Full Text: https://doi.org/10.1212/WNL.0b013e3182697986]

  15. Bae, B.-I., Hara, M. R., Cascio, M. B., Wellington, C. L., Hayden, M. R., Ross, C. A., Ha, H. C., Li, X.-J., Snyder, S. H., Sawa, A. Mutant Huntingtin: nuclear translocation and cytotoxicity mediated by GAPDH. Proc. Nat. Acad. Sci. 103: 3405-3409, 2006. [PubMed: 16492755] [Full Text: https://doi.org/10.1073/pnas.0511316103]

  16. Bamford, K. A., Caine, E. D., Kido, D. K., Cox, C., Shoulson, I. A prospective evaluation of cognitive decline in early Huntington's disease: functional and radiographic correlates. Neurology 45: 1867-1873, 1995. [PubMed: 7477984] [Full Text: https://doi.org/10.1212/wnl.45.10.1867]

  17. Bao, Y. P., Sarkar, S., Uyama, E., Rubinsztein, D. C. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. J. Med. Genet. 41: 47-51, 2004. [PubMed: 14729833] [Full Text: https://doi.org/10.1136/jmg.2003.014548]

  18. Barbeau, A. Parental ascent in the juvenile form of Huntington's chorea. (Letter) Lancet 296: 937 only, 1970. Note: Originally Volume II. [PubMed: 4097325] [Full Text: https://doi.org/10.1016/s0140-6736(70)92119-7]

  19. Barinaga, M. An intriguing new lead on Huntington's disease. Science 271: 1233-1234, 1996. [PubMed: 8638101] [Full Text: https://doi.org/10.1126/science.271.5253.1233]

  20. Barkley, D. S., Hardiwidjaja, S., Menkes, J. H. Abnormalities in growth of skin fibroblasts of patients with Huntington's disease. Ann. Neurol. 1: 426-430, 1977. [PubMed: 152598] [Full Text: https://doi.org/10.1002/ana.410010505]

  21. Bates, G. P., Mangiarini, L., Mahal, A., Davies, S. W. Transgenic models of Huntington's disease. Hum. Molec. Genet. 6: 1633-1637, 1997. [PubMed: 9300654] [Full Text: https://doi.org/10.1093/hmg/6.10.1633]

  22. Bates, G. P., Valdes, J., Hummerich, H., Baxendale, S., Le Paslier, D. L., Monaco, A. P., Tagle, D., MacDonald, M. E., Altherr, M., Ross, M., Brownstein, B. H., Bentley, D., Wasmuth, J. J., Gusella, J. F., Cohen, D., Collins, F., Lehrach, H. Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genet. 1: 180-187, 1992. [PubMed: 1303232] [Full Text: https://doi.org/10.1038/ng0692-180]

  23. Becanovic, K., Pouladi, M. A., Lim, R. S., Kuhn, A., Pavlidis, P., Luthi-Carter, R., Hayden, M. R., Leavitt, B. R. Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. Hum. Molec. Genet. 19: 1438-1452, 2010. [PubMed: 20089533] [Full Text: https://doi.org/10.1093/hmg/ddq018]

  24. Behan, P. O., Bone, I. Hereditary chorea without dementia. J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977. [PubMed: 144176] [Full Text: https://doi.org/10.1136/jnnp.40.7.687]

  25. Benn, C. L., Landles, C., Li, H., Strand, A. D., Woodman, B., Sathasivam, K., Li, S.-H., Ghazi-Noori, S., Hockly, E., Faruque, S. M. N. N., Cha, J.-H. J., Sharpe, P. T., Olson, J. M., Li, X.-J., Bates, G. P. Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease. Hum. Molec. Genet. 14: 3065-3078, 2005. [PubMed: 16183657] [Full Text: https://doi.org/10.1093/hmg/ddi340]

  26. Bennett, E. J., Shaler, T. A., Woodman, B., Ryu, K.-Y., Zaitseva, T. S., Becker, C. H., Bates, G. P., Schulman, H., Kopito, R. R. Global changes to the ubiquitin system in Huntington's disease. Nature 448: 704-708, 2007. [PubMed: 17687326] [Full Text: https://doi.org/10.1038/nature06022]

  27. Berger, Z., Ttofi, E. K., Michel, C. H., Pasco, M. Y., Tenant, S., Rubinsztein, D. C., O'Kane, C. J. Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway. Hum. Molec. Genet. 14: 3003-3011, 2005. [PubMed: 16141285] [Full Text: https://doi.org/10.1093/hmg/ddi331]

  28. Bernardi, G. The isochore organization of the human genome. Annu. Rev. Genet. 23: 637-661, 1989. [PubMed: 2694946] [Full Text: https://doi.org/10.1146/annurev.ge.23.120189.003225]

  29. Bezprozvanny, I., Hayden, M. R. Deranged neuronal calcium signaling and Huntington disease. Biochem. Biophys. Res. Commun. 322: 1310-1317, 2004. [PubMed: 15336977] [Full Text: https://doi.org/10.1016/j.bbrc.2004.08.035]

  30. Bibb, J. A., Yan, Z., Svenningsson, P., Snyder, G. L., Pieribone, V. A., Horiuchi, A., Nairn, A. C., Messer, A., Greengard, P. Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice. Proc. Nat. Acad. Sci. 97: 6809-6814, 2000. [PubMed: 10829080] [Full Text: https://doi.org/10.1073/pnas.120166397]

  31. Bird, E. D., Caro, A. J., Pilling, J. B. A sex related factor in the inheritance of Huntington's chorea. Ann. Hum. Genet. 37: 255-260, 1974. [PubMed: 4273155] [Full Text: https://doi.org/10.1111/j.1469-1809.1974.tb01833.x]

  32. Bird, T. D., Omenn, G. S. Monozygotic twins with Huntington's disease in a family expressing the rigid variant. Neurology 25: 1126-1129, 1975. [PubMed: 127951] [Full Text: https://doi.org/10.1212/wnl.25.12.1126]

  33. Bjorkqvist, M., Fex, M., Renstrom, E., Wierup, N., Petersen, A., Gil, J., Bacos, K., Popovic, N., Li, J.-Y., Sundler, F., Brundin, P., Mulder, H. The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient beta-cell mass and exocytosis. Hum. Molec. Genet. 14: 565-574, 2005. [PubMed: 15649949] [Full Text: https://doi.org/10.1093/hmg/ddi053]

  34. Bloch, M., Hayden, M. R. Preclinical testing in Huntington disease. (Letter) Am. J. Med. Genet. 27: 733-734, 1987. [PubMed: 2957915] [Full Text: https://doi.org/10.1002/ajmg.1320270333]

  35. Bloch, M., Hayden, M. R. Predictive testing for Huntington disease in childhood: challenges and implications. Am. J. Hum. Genet. 46: 1-4, 1990. [PubMed: 2136787]

  36. Boehnke, M., Conneally, P. M., Lange, K. Two models for a maternal factor in the inheritance of Huntington disease. Am. J. Hum. Genet. 35: 845-860, 1983. [PubMed: 6225335]

  37. Borrell-Pages, M., Canals, J. M., Cordelieres, F. P., Parker, J. A., Pineda, J. R., Grange, G., Bryson, E. A., Guillermier, M., Hirsch, E., Hantraye, P., Cheetham, M. E., Neri, C., Alberch, J., Brouillet, E., Saudou, F., Humbert, S. Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J. Clin. Invest. 116: 1410-1424, 2006. [PubMed: 16604191] [Full Text: https://doi.org/10.1172/JCI27607]

  38. Brackenridge, C. J., Case, J., Chiu, E., Propert, D. N., Teltscher, B., Wallace, D. C. A linkage study of the loci for Huntington's disease and some common polymorphic markers. Ann. Hum. Genet. 42: 203-211, 1978. [PubMed: 153119] [Full Text: https://doi.org/10.1111/j.1469-1809.1978.tb00652.x]

  39. Brackenridge, C. J. The relation of type of initial symptoms and line of transmission to ages at onset and death in Huntington's disease. Clin. Genet. 2: 287-297, 1971. [PubMed: 4259873] [Full Text: https://doi.org/10.1111/j.1399-0004.1971.tb00289.x]

  40. Brackenridge, C. J. Familial correlations for age at onset and age at death in Huntington's disease. J. Med. Genet. 9: 23-32, 1972. [PubMed: 4260238] [Full Text: https://doi.org/10.1136/jmg.9.1.23]

  41. Brackenridge, C. J. Relationship of parental age to rigidity in Huntington's disease. J. Med. Genet. 11: 136-140, 1974. [PubMed: 4276243] [Full Text: https://doi.org/10.1136/jmg.11.2.136]

  42. Brinkman, R. R., Mezei, M. M., Theilmann, J., Almqvist, E., Hayden, M. R. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am. J. Hum. Genet. 60: 1202-1210, 1997. [PubMed: 9150168]

  43. Brothers, C. R. D. The history and incidence of Huntington's chorea in Tasmania. Proc. Roy. Aust. Coll. Physicians 4: 48-50, 1949.

  44. Buetow, K. H., Shiang, R., Yang, P., Nakamura, Y., Lathrop, G. M., White, R., Wasmuth, J. J., Wood, S., Berdahl, L. D., Leysens, N. J., Ritty, T. M., Wise, M. E., Murray, J. C. A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am. J. Hum. Genet. 48: 911-925, 1991. [PubMed: 1673289]

  45. Bundey, S. New mutations in Huntington's chorea. (Letter) J. Med. Genet. 20: 76-77, 1983. [PubMed: 6221101] [Full Text: https://doi.org/10.1136/jmg.20.1.76]

  46. Byers, R. K., Dodge, J. A. Huntington's chorea in children: report of four cases. Neurology 17: 587-596, 1967. [PubMed: 4226025] [Full Text: https://doi.org/10.1212/wnl.17.6.587]

  47. Campbell, A. M. G., Corner, B. D., Norman, R. M., Urich, H. The rigid form of Huntington's disease. J. Neurol. Neurosurg. Psychiat. 24: 71-77, 1961. [PubMed: 13690201] [Full Text: https://doi.org/10.1136/jnnp.24.1.71]

  48. Cariello, L., de Cristofaro, T., Zanetti, L., Cuomo, T., Di Maio, L., Campanella, G., Rinaldi, S., Zanetti, P., Di Lauro, R., Varrone, S. Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease. Hum. Genet. 98: 633-635, 1996. [PubMed: 8931689] [Full Text: https://doi.org/10.1007/s004390050273]

  49. Caro, A., Haines, S. The history of Huntington's chorea. Update Medical History July: 91-95, 1975.

  50. Chan, E. Y. W., Luthi-Carter, R., Strand, A., Solano, S. M., Hanson, S. A., DeJohn, M. M., Kooperberg, C., Chase, K. O., DiFiglia, M., Young, A. B., Leavitt, B. R., Cha, J.-H. J., Aronin, N., Hayden, M. R., Olson, J. M. Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease. Hum. Molec. Genet. 11: 1939-1951, 2002. [PubMed: 12165556] [Full Text: https://doi.org/10.1093/hmg/11.17.1939]

  51. Chan, H. Y. E., Warrick, J. M., Gray-Board, G. L., Paulson, H. L., Bonini, N. M. Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila. Hum. Molec. Genet. 9: 2811-2820, 2000. [PubMed: 11092757] [Full Text: https://doi.org/10.1093/hmg/9.19.2811]

  52. Chandler, J. H., Reed, T. E., Dejong, R. N. Huntington's chorea in Michigan. Neurology 10: 148-153, 1960. [PubMed: 13809126] [Full Text: https://doi.org/10.1212/wnl.10.2.148]

  53. Charvin, D., Vanhoutte, P., Pages, C., Borrelli, E., Caboche, J. Unraveling a role for dopamine in Huntington's disease: the dual role of reactive oxygen species and D2 receptor stimulation. Proc. Nat. Acad. Sci. 102: 12218-12223, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 102: 16530 only, 2005. [PubMed: 16103364] [Full Text: https://doi.org/10.1073/pnas.0502698102]

  54. Chase, T. N., Wexler, N. S., Barbeau, A. (eds.). Huntington's Disease. Advances in Neurology. Vol. 23. New York: Raven Press (pub.) 1979.

  55. Chen, M., Ona, V. O., Li, M., Ferrante, R. J., Fink, K. B., Zhu, S., Bian, J., Guo, L., Farrell, L. A., Hersch, S. M., Hobbs, W., Vonsattel, J.-P., Cha, J.-H. J., Friedlander, R. M. Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nature Med. 6: 797-801, 2000. [PubMed: 10888929] [Full Text: https://doi.org/10.1038/77528]

  56. Chen, S., Ferrone, F. A., Wetzel, R. Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation. Proc. Nat. Acad. Sci. 99: 11884-11889, 2002. [PubMed: 12186976] [Full Text: https://doi.org/10.1073/pnas.182276099]

  57. Cheng, P.-H., Li, C.-L., Chang, Y.-F., Tsai, S.-J., Lai, Y.-Y., Chan, A. W. S., Chen, C.-M., Yang, S.-H. miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. Am. J. Hum. Genet. 93: 306-312, 2013. [PubMed: 23810380] [Full Text: https://doi.org/10.1016/j.ajhg.2013.05.025]

  58. Chiang, M.-C., Chen, C.-M., Lee, M.-R., Chen, H.-W., Chen, H.-M., Wu, Y.-S., Hung, C.-H., Kang, J.-J., Chang, C.-P., Chang, C., Wu, Y.-R., Tsai, Y.-S., Chern, Y. Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma. Hum. Molec. Genet. 19: 4043-4058, 2010. [PubMed: 20668093] [Full Text: https://doi.org/10.1093/hmg/ddq322]

  59. Chiang, M.-C., Chen, H.-M., Lai, H.-L., Chen, H.-W., Chou, S.-Y., Chen, C.-M., Tsai, F.-J., Chern, Y. The A(2A) adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin-proteasome system. Hum. Molec. Genet. 18: 2929-2942, 2009. [PubMed: 19443488] [Full Text: https://doi.org/10.1093/hmg/ddp230]

  60. Chiang, M.-C., Chen, H.-M., Lee, Y.-H., Chang, H.-H., Wu, Y.-C., Soong, B.-W., Chen, C.-M., Wu, Y.-R., Liu, C.-S., Niu, D.-M., Wu, J.-Y., Chen, Y.-T., Chern, Y. Dysregulation of C/EBP-alpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Hum. Molec. Genet. 16: 483-498, 2007. [PubMed: 17213233] [Full Text: https://doi.org/10.1093/hmg/ddl481]

  61. Choo, Y. S., Johnson, G. V. W., MacDonald, M., Detloff, P. J., Lesort, M. Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. Hum. Molec. Genet. 13: 1407-1420, 2004. [PubMed: 15163634] [Full Text: https://doi.org/10.1093/hmg/ddh162]

  62. Chou, S. Y., Lee, Y. C., Chen, H. M., Chiang, M. C., Lai, H. L., Chang, H. H., Wu, Y. C., Sun, C. N., Chien, C. L., Lin, Y. S., Wang, S. C., Tung, Y. Y., Chang, C., Chern, Y. CGS21680 attenuates symptoms of Huntington's disease in a transgenic mouse model. J. Neurochem. 93: 310-320, 2005. [PubMed: 15816854] [Full Text: https://doi.org/10.1111/j.1471-4159.2005.03029.x]

  63. Clarke, G., Collins, R. A., Leavitt, B. R., Andrews, D. F., Hayden, M. R., Lumsden, C. J., McInnes, R. R. A one-hit model of cell death in inherited neuronal degenerations. Nature 406: 195-199, 2000. [PubMed: 10910361] [Full Text: https://doi.org/10.1038/35018098]

  64. Coles, R., Leggo, J., Rubinsztein, D. C. Analysis of the 5-prime upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. J. Med. Genet. 34: 371-374, 1997. [PubMed: 9152833] [Full Text: https://doi.org/10.1136/jmg.34.5.371]

  65. Collins, F. S., Richards, J. E., Cole, J. L., Gilliam, T. C., Gusella, J. F. Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. (Abstract) Cytogenet. Cell Genet. 46: 597, 1987.

  66. Connarty, M., Dennis, N. R., Patch, C., Macpherson, J. N., Harvey, J. F. Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. Hum. Genet. 97: 76-78, 1996. [PubMed: 8557266] [Full Text: https://doi.org/10.1007/BF00218837]

  67. Conneally, P. M., Haines, J. L., Tanzi, R. E., Wexler, N. S., Penchaszadeh, G. K., Harper, P. S., Folstein, S. E., Cassiman, J. J., Myers, R. H., Young, A. B., Hayden, M. R., Falek, A., Tolosa, E. S., Crespi, S., Di Maio, L., Holmgren, G., Anvret, M., Kanazawa, I., Gusella, J. F. Huntington disease: no evidence for locus heterogeneity. Genomics 5: 304-308, 1989. [PubMed: 2571579] [Full Text: https://doi.org/10.1016/0888-7543(89)90062-1]

  68. Conneally, P. M. Huntington disease: genetics and epidemiology. Am. J. Hum. Genet. 36: 506-526, 1984. [PubMed: 6233902]

  69. Costa, M. C., Magalhaes, P., Guimaraes, L., Maciel, P., Sequeiros, J., Sousa, A. The CAG repeat at the Huntington disease gene in Portuguese population: insights into its dynamics and to the origin of the mutation. J. Hum. Genet. 51: 189-195, 2006. [PubMed: 16372132] [Full Text: https://doi.org/10.1007/s10038-005-0343-8]

  70. Craufurd, D., Dodge, A., Kerzin-Storrar, L., Harris, R. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet 334: 603-605, 1989. Note: Originally Volume II. [PubMed: 2570293] [Full Text: https://doi.org/10.1016/s0140-6736(89)90722-8]

  71. Critchley, M. Great Britain and the early history of Huntington's chorea. In: Barbeau, A.; Chase, T. N.; Paulson, G. W. (eds.): Advances in Neurology. Vol. 1. New York: Raven Press (pub.) 1973.

  72. Critchley, M. The history of Huntington's chorea. (Editorial) Psych. Med. 14: 725-727, 1984. [PubMed: 6242493] [Full Text: https://doi.org/10.1017/s003329170001967x]

  73. Crittenden, J. R., Dunn, D. E., Merali, F. I., Woodman, B., Yim, M., Borkowska, A. E., Frosch, M. P., Bates, G. P., Housman, D. E., Lo, D. C., Graybiel, A. M. CalDAG-GEF1 down-regulation in the striatum as a neuroprotective change in Huntington's disease. Hum. Molec. Genet. 19: 1756-1765, 2010. [PubMed: 20147317] [Full Text: https://doi.org/10.1093/hmg/ddq055]

  74. Cui, L., Jeong, H., Borovecki, F., Parkhurst, C. N., Tanese, N., Krainc, D. Transcriptional repression of PGC-1-alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 127: 59-69, 2006. [PubMed: 17018277] [Full Text: https://doi.org/10.1016/j.cell.2006.09.015]

  75. Curtis, M. A., Penney, E. B., Pearson, A. G., van Roon-Mom, W. M. C., Butterworth, N. J., Dragunow, M., Connor, B., Faull, R. L. M. Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain. Proc. Nat. Acad. Sci. 100: 9023-9027, 2003. [PubMed: 12853570] [Full Text: https://doi.org/10.1073/pnas.1532244100]

  76. Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L., Bates, G. P. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90: 537-548, 1997. [PubMed: 9267033] [Full Text: https://doi.org/10.1016/s0092-8674(00)80513-9]

  77. Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J.-J., Cloostermans, T., Demyttenaere, K., Dom, R., Fryns, J.-P., Van den Berghe, H. Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J. Med. Genet. 33: 737-743, 1996. [PubMed: 8880572] [Full Text: https://doi.org/10.1136/jmg.33.9.737]

  78. DiFiglia, M., Sapp, E., Chase, K. O., Davies, S. W., Bates, G. P., Vonsattel, J. P., Aronin, N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277: 1990-1993, 1997. [PubMed: 9302293] [Full Text: https://doi.org/10.1126/science.277.5334.1990]

  79. Djousse, L., Knowlton, B., Hayden, M., Almqvist, E. W., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Morrison, P. J., Novelletto, A., and 17 others. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am. J. Med. Genet. 119A: 279-282, 2003. [PubMed: 12784292] [Full Text: https://doi.org/10.1002/ajmg.a.20190]

  80. Djousse, L., Knowlton, B., Hayden, M. R., Almqvist, E. W., Brinkman, R. R., Ross, C. A., Margolis, R. L., Rosenblatt, A., Durr, A., Dode, C., Morrison, P. J., Novelletto, A., and 18 others. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics 5: 109-114, 2004. [PubMed: 15029481] [Full Text: https://doi.org/10.1007/s10048-004-0175-2]

  81. Doggett, N. A., Cheng, J.-F., Smith, C. L., Cantor, C. R. The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. Proc. Nat. Acad. Sci. 86: 10011-10014, 1989. [PubMed: 2557612] [Full Text: https://doi.org/10.1073/pnas.86.24.10011]

  82. Dunah, A. W., Jeong, H., Griffin, A., Kim, Y.-M., Standaert, D. G., Hersch, S. M., Mouradian, M. M., Young, A. B., Tanese, N., Krainc, D. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 296: 2238-2243, 2002. [PubMed: 11988536] [Full Text: https://doi.org/10.1126/science.1072613]

  83. Durbach, N., Hayden, M. R. George Huntington: the man behind the eponym. J. Med. Genet. 30: 406-409, 1993. [PubMed: 8320704] [Full Text: https://doi.org/10.1136/jmg.30.5.406]

  84. Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., and 30 others. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4: 387-392, 1993. [PubMed: 8401587] [Full Text: https://doi.org/10.1038/ng0893-387]

  85. Dyer, R. B., McMurray, C. T. Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Nature Genet. 29: 270-278, 2001. [PubMed: 11600884] [Full Text: https://doi.org/10.1038/ng745]

  86. Enna, S. J., Bird, E. D., Bennett, J. P., Jr., Bylund, D. B., Yamamura, H. I., Iversen, L. L., Snyder, S. H. Huntington's chorea: changes in neurotransmitter receptors in the brain. New Eng. J. Med. 294: 1305-1309, 1976. [PubMed: 4733] [Full Text: https://doi.org/10.1056/NEJM197606102942402]

  87. Erickson, R. P. Chromosomal imprinting and the parent transmission specific variation in expressivity of Huntington disease. (Letter) Am. J. Hum. Genet. 37: 827-829, 1985. [PubMed: 9556671]

  88. Faber, P. W., Barnes, G. T., Srinidhi, J., Chen, J., Gusella, J. F., MacDonald, M. E. Huntingtin interacts with a family of WW domain proteins. Hum. Molec. Genet. 7: 1463-1474, 1998. [PubMed: 9700202] [Full Text: https://doi.org/10.1093/hmg/7.9.1463]

  89. Faideau, M., Kim, J., Cormier, K., Gilmore, R., Welch, M., Auregan, G., Dufour, N., Guillermier, M., Brouillet, E., Hantraye, P., Deglon, N., Ferrante, R. J., Bonvento, G. In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects. Hum. Molec. Genet. 19: 3053-3067, 2010. [PubMed: 20494921] [Full Text: https://doi.org/10.1093/hmg/ddq212]

  90. Falush, D., Almqvist, E. W., Brinkmann, R. R., Iwasa, Y., Hayden, M. R. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am. J. Hum. Genet. 68: 373-385, 2001. [PubMed: 11225602] [Full Text: https://doi.org/10.1086/318193]

  91. Falush, D. Haplotype background, repeat length evolution, and Huntington's disease. (Letter) Am. J. Hum. Genet. 85: 939-942, 2009. [PubMed: 20004772] [Full Text: https://doi.org/10.1016/j.ajhg.2009.11.002]

  92. Farrer, L. A., Conneally, P. M., Yu, P. The natural history of Huntington disease: possible role of 'aging genes.'. Am. J. Med. Genet. 18: 115-123, 1984. [PubMed: 6234800] [Full Text: https://doi.org/10.1002/ajmg.1320180115]

  93. Farrer, L. A., Conneally, P. M. A genetic model for age at onset in Huntington disease. Am. J. Hum. Genet. 37: 350-357, 1985. [PubMed: 3157315]

  94. Farrer, L. A., Cupples, L. A., Wiater, P., Conneally, P. M., Gusella, J. F., Myers, R. H. The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am. J. Hum. Genet. 53: 125-130, 1993. [PubMed: 8317477]

  95. Ferrante, R. J., Kowall, N. W., Beal, M. F., Richardson, E. P., Jr., Bird, E. D., Martin, J. B. Selective sparing of a class of striatal neurons in Huntington's disease. Science 230: 561-563, 1985. [PubMed: 2931802] [Full Text: https://doi.org/10.1126/science.2931802]

  96. Fink, K. B., Andrews, L. J., Butler, W. E., Ona, V. O., Li, M., Bogdanov, M., Endres, M., Khan, S. Q., Namura, S., Stieg, P. E., Beal, M. F., Moskowitz, M. A., Yuan, J., Friedlander, R. M. Reduction of post-traumatic brain injury and free radical production by inhibition of the caspase-1 cascade. Neuroscience 94: 1213-1218, 1999. [PubMed: 10625061] [Full Text: https://doi.org/10.1016/s0306-4522(99)00345-0]

  97. Folstein, S., Abbott, M., Moser, R., Parhad, I., Clark, A., Folstein, M. A phenocopy of Huntington's disease: lacunar infarcts of the corpus striatum. Johns Hopkins Med. J. 148: 104-108, 1981. [PubMed: 6451753]

  98. Folstein, S. E., Abbott, M. H., Franz, M. L., Huang, S., Chase, G. A., Folstein, M. F. Phenotypic heterogeneity in Huntington disease. J. Neurogenet. 1: 175-184, 1984. [PubMed: 6242167] [Full Text: https://doi.org/10.3109/01677068409107083]

  99. Folstein, S. E., Chase, G. A., Wahl, W. E., McDonnell, A. M., Folstein, M. F. Huntington disease in Maryland: clinical aspects of racial variation. Am. J. Hum. Genet. 41: 168-179, 1987. [PubMed: 2956881]

  100. Folstein, S. E., Phillips, J. A., III, Meyers, D. A., Chase, G. A., Abbott, M. H., Franz, M. L., Waber, P. G., Kazazian, H. H., Jr., Conneally, P. M., Hobbs, W., Tanzi, R., Faryniarz, A., Gibbons, K., Gusella, J. Huntington's disease: two families with differing clinical features show linkage to the G8 probe. Science 229: 776-779, 1985. [PubMed: 2992086] [Full Text: https://doi.org/10.1126/science.2992086]

  101. Fossale, E., Wheeler, V. C., Vrbanac, V., Lebel, L.-A., Teed, A., Mysore, J. S., Gusella, J. F., MacDonald, M. E., Persichetti, F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum. Molec. Genet. 11: 2233-2241, 2002. [PubMed: 12217951] [Full Text: https://doi.org/10.1093/hmg/11.19.2233]

  102. Freeman, T. B., Cicchetti, F., Hauser, R. A., Deacon, T. W., Li, X.-J., Hersch, S. M., Nauert, G. M., Sanberg, P. R., Kordower, J. H., Saporta, S., Isacson, O. Transplanted fetal striatum in Huntington's disease: phenotypic development and lack of pathology. Proc. Nat. Acad. Sci. 97: 13877-13882, 2000. [PubMed: 11106399] [Full Text: https://doi.org/10.1073/pnas.97.25.13877]

  103. Friedlander, R. M. Apoptosis and caspases in neurodegenerative diseases. New Eng. J. Med. 348: 1365-1375, 2003. [PubMed: 12672865] [Full Text: https://doi.org/10.1056/NEJMra022366]

  104. Friedman, J. H., Trieschmann, M. E., Myers, R. H., Fernandez, H. H. Monozygotic twins discordant for Huntington disease after 7 years. Arch. Neurol. 62: 995-997, 2005. [PubMed: 15956172] [Full Text: https://doi.org/10.1001/archneur.62.6.995]

  105. Froster-Iskenius, U. G., Hayden, M. R., Wang, H. S., Kalousek, D. K., Horsman, D., Pfeiffer, R. A., Schottky, A., Schwinger, E. A family with Huntington disease and reciprocal translocation 4;5. Am. J. Hum. Genet. 38: 759-767, 1986. [PubMed: 2940859]

  106. Garcia-Planells, J., Burguera, J. A., Solis, P., Millan, J. M., Ginestar, D., Palau, F., Espinos, C. Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. Hum. Mutat. 25: 453-459, 2005. [PubMed: 15832309] [Full Text: https://doi.org/10.1002/humu.20167]

  107. Gellera, C., Meoni, C., Castellotti, B., Zappacosta, B., Girotti, F., Taroni, F., DiDonato, S. Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. (Letter) Am. J. Hum. Genet. 59: 475-477, 1996. [PubMed: 8755937]

  108. Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium. CAG repeat not polyglutamine length determines timing of Huntington's disease onset. Cell 178: 887-900.e14, 2019. [PubMed: 31398342] [Full Text: https://doi.org/10.1016/j.cell.2019.06.036]

  109. Georgiou, N., Bradshaw, J. L., Chiu, E., Tudor, A., O'Gorman, L., Phillips, J. G. Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease. Mov. Disord. 14: 320-325, 1999. [PubMed: 10091627] [Full Text: https://doi.org/10.1002/1531-8257(199903)14:2<320::aid-mds1018>3.0.co;2-z]

  110. Gervais, F. G., Singaraja, R., Xanthoudakis, S., Gutekunst, C.-A., Leavitt, B. R., Metzler, M., Hackam, A. S., Tam, J., Vaillancourt, J. P., Houtzager, V., Rasper, D. M., Roy, S., Hayden, M. R., Nicholson, D. W. Recruitment and activation of caspase-8 by the huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nature Cell Biol. 4: 95-105, 2002. [PubMed: 11788820] [Full Text: https://doi.org/10.1038/ncb735]

  111. Ghosh, S., Feany, M. B. Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases. Hum. Molec. Genet. 13: 2011-2018, 2004. [PubMed: 15254017] [Full Text: https://doi.org/10.1093/hmg/ddh214]

  112. Gidalevitz, T., Ben-Zvi, A., Ho, K. H., Brignull, H. R., Morimoto, R. I. Progressive disruption of cellular protein folding in models of polyglutamine diseases. Science 311: 1471-1474, 2006. [PubMed: 16469881] [Full Text: https://doi.org/10.1126/science.1124514]

  113. Gilliam, T. C., Bucan, M., MacDonald, M. E., Zimmer, M., Haines, J. L., Cheng, S. V., Pohl, T. M., Meyers, R. H., Whaley, W. L., Allitto, B. A., Faryniarz, A., Wasmuth, J. J., Frischauf, A.-M., Conneally, P. M., Lehrach, H., Gusella, J. F. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science 238: 950-952, 1987. [PubMed: 2890209] [Full Text: https://doi.org/10.1126/science.2890209]

  114. Gilliam, T. C., Tanzi, R. E., Haines, J. L., Bonner, T. I., Faryniarz, A. G., Hobbs, W. J., MacDonald, M. E., Cheng, S. V., Folstein, S. E., Conneally, P. M., Wexler, N. S., Gusella, J. F. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell 50: 565-571, 1987. [PubMed: 2886227] [Full Text: https://doi.org/10.1016/0092-8674(87)90029-8]

  115. Gines, S., Seong, I. S., Fossale, E., Ivanova, E., Trettel, F., Gusella, J. F., Wheeler, V. C., Persichetti, F., MacDonald, M. E. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum. Molec. Genet. 12: 497-508, 2003. [PubMed: 12588797] [Full Text: https://doi.org/10.1093/hmg/ddg046]

  116. Giordani, B., Berent, S., Boivin, M. J., Penney, J. B., Lehtinen, S., Markel, D. S., Hollingsworth, Z., Butterbaugh, G., Hichwa, R. D., Gusella, J. F., Young, A. B. Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Arch. Neurol. 52: 59-64, 1995. [PubMed: 7826277] [Full Text: https://doi.org/10.1001/archneur.1995.00540250063014]

  117. Goehler, H., Lalowski, M., Stelzl, U., Waelter, S., Stroedicke, M., Worm, U., Droege, A., Lindenberg, K. S., Knoblich, M., Haenig, C., Herbst, M., Suopanki, J., and 12 others. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Molec. Cell 15: 853-865, 2004. Note: Erratum: Molec. Cell 19: 287 only, 2005. [PubMed: 15383276] [Full Text: https://doi.org/10.1016/j.molcel.2004.09.016]

  118. Goetz, I., Roberts, E., Comings, D. E. Fibroblasts in Huntington's disease. New Eng. J. Med. 293: 1225-1227, 1975. [PubMed: 127123] [Full Text: https://doi.org/10.1056/NEJM197512112932403]

  119. Goldberg, Y. P., Andrew, S. E., Theilmann, J., Kremer, B., Squitieri, F., Telenius, H., Brown, J. D., Hayden, M. R. Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases. J. Med. Genet. 30: 987-990, 1993. [PubMed: 8133509] [Full Text: https://doi.org/10.1136/jmg.30.12.987]

  120. Goldberg, Y. P., Kalchman, M. A., Metzler, M., Nasir, J., Zeisler, J., Graham, R., Koide, H. B., O'Kusky, J., Sharp, A. H., Ross, C. A., Jirik, F., Hayden, M. R. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Molec. Genet. 5: 177-185, 1996. [PubMed: 8824873] [Full Text: https://doi.org/10.1093/hmg/5.2.177]

  121. Goldberg, Y. P., Kremer, B., Andrew, S. E., Theilmann, J., Graham, R. K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E., Heiberg, A., Wolff, G., Hayden, M. R. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genet. 5: 174-179, 1993. [PubMed: 8252043] [Full Text: https://doi.org/10.1038/ng1093-174]

  122. Goldberg, Y. P., Nicholson, D. W., Rasper, D. M., Kalchman, M. A., Koide, H. B., Graham, R. K., Bromm, M., Kazemi-Esfarjani, P., Thornberry, N. A., Vaillancourt, J. P., Hayden, M. R. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13: 442-449, 1996. [PubMed: 8696339] [Full Text: https://doi.org/10.1038/ng0896-442]

  123. Goldberg, Y. P., Rommens, J. M., Andrew, S. E., Hutchinson, G. B., Lin, B., Theilmann, J., Graham, R., Glaves, M. L., Starr, E., McDonald, H., Nasir, J., Schappert, K., Kalchman, M. A., Clarke, L. A., Hayden, M. R. Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease. Nature 362: 370-373, 1993. [PubMed: 8384324] [Full Text: https://doi.org/10.1038/362370a0]

  124. Green, H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74: 955-956, 1993. [PubMed: 8104707] [Full Text: https://doi.org/10.1016/0092-8674(93)90718-6]

  125. Greenamyre, J. T. Huntington's disease--making connections. New Eng. J. Med. 356: 518-520, 2007. [PubMed: 17267914] [Full Text: https://doi.org/10.1056/NEJMcibr067022]

  126. Greenberg, L. J., Martell, R. W., Theilman, J., Hayden, M. R., Joubert, J. Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum. Genet. 87: 701-708, 1991. [PubMed: 1834541] [Full Text: https://doi.org/10.1007/BF00201729]

  127. Gu, M., Gash, M. T., Mann, V. M., Javoy-Agid, F., Cooper, J. M., Schapira, A. H. V. Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 39: 385-389, 1996. [PubMed: 8602759] [Full Text: https://doi.org/10.1002/ana.410390317]

  128. Gunawardena, S., Her, L.-S., Brusch, R. G., Laymon, R. A., Niesman, I. R., Gordesky-Gold, B., Sintasath, L., Bonini, N. M., Goldstein, L. S. B. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 40: 25-40, 2003. [PubMed: 14527431] [Full Text: https://doi.org/10.1016/s0896-6273(03)00594-4]

  129. Gusella, J. F., Gibbons, K., Hobbs, W., Heft, R., Anderson, M., Rashtchian, R., Folstein, S., Wallace, P., Conneally, P. M., Tanzi, R. The G8 locus linked to Huntington's disease. (Abstract) Am. J. Hum. Genet. 36: 139S, 1984.

  130. Gusella, J. F., McNeil, S., Persichetti, F., Srinidhi, J., Novelletto, A., Bird, E., Faber, P., Vonsattel, J.-P., Myers, R. H., MacDonald, M. E. Huntington's disease. Cold Spring Harbor Symp. Quant. Biol. 61: 615-626, 1996. [PubMed: 9246488]

  131. Gusella, J. F., Tanzi, R., Anderson, M. A., Ottina, K., Wallace, M., Conneally, P. M. Linkage analysis of Huntington's disease using RFLPs. (Abstract) Cytogenet. Cell Genet. 37: 484-485, 1984.

  132. Gusella, J. F., Tanzi, R. E., Anderson, M. A., Hobbs, W., Gibbons, K., Raschtchian, R., Gilliam, T. C., Wallace, M. R., Wexler, N. S., Conneally, P. M. DNA markers for nervous system diseases. Science 225: 1320-1326, 1984. [PubMed: 6089346] [Full Text: https://doi.org/10.1126/science.6089346]

  133. Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K., Wallace, M. R., Sakaguchi, A. Y., Young, A. B., Shoulson, I., Bonilla, E., Martin, J. B. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234-238, 1983. [PubMed: 6316146] [Full Text: https://doi.org/10.1038/306234a0]

  134. Gusella, J., Tanzi, R. E., Bader, P. I., Phelan, M. C., Stevenson, R., Hayden, M. R., Hofman, K. J., Faryniarz, A. G., Gibbons, K. Deletion of Huntington's disease linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 318: 75-78, 1985. [PubMed: 2997623] [Full Text: https://doi.org/10.1038/318075a0]

  135. Haines, J., Tanzi, R., Wexler, N., Harper, P., Folstein, S., Cassiman, J., Meyers, R., Young, A., Hayden, M., Falek, A., Tolosa, E., Crespi, S., Campanella, G., Holmgren, G., Anvret, M., Kanazawa, I., Gusella, J., Conneally, M. No evidence of linkage heterogeneity between Huntington disease (HD) and G8 (D4S10). (Abstract) Am. J. Hum. Genet. 39: A156, 1986.

  136. Hansson, O., Petersen, A., Leist, M., Nicotera, P., Castilho, R. F., Brundin, P. Transgenic mice expressing a Huntington's disease mutation are resistant to quinolinic acid-induced striatal excitotoxicity. Proc. Nat. Acad. Sci. 96: 8727-8732, 1999. [PubMed: 10411943] [Full Text: https://doi.org/10.1073/pnas.96.15.8727]

  137. Harding, A. E. Genetic aspects of autosomal dominant late onset cerebellar ataxia. J. Med. Genet. 18: 436-441, 1981. [PubMed: 7334501] [Full Text: https://doi.org/10.1136/jmg.18.6.436]

  138. Harper, P. S., Lim, C., Craufurd, D. Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium. J. Med. Genet. 37: 567-571, 2000. [PubMed: 10922381] [Full Text: https://doi.org/10.1136/jmg.37.8.567]

  139. Harper, P. S., Sarfarazi, M. Genetic prediction and family structure in Huntington's chorea. Brit. Med. J. 290: 1929-1931, 1985. [PubMed: 3159461] [Full Text: https://doi.org/10.1136/bmj.290.6486.1929]

  140. Harper, P. S., Tyler, A., Walker, D. A., Newcombe, R. G., Davies, K. Huntington's chorea: the basis for long-term prevention. Lancet 314: 346-349, 1979. Note: Originally Volume II. [PubMed: 89402] [Full Text: https://doi.org/10.1016/s0140-6736(79)90356-8]

  141. Harper, P. S., Youngman, S., Anderson, M. A., Sarfarazi, M., Quarrell, O., Tanzi, R., Shaw, D., Wallace, P., Conneally, P. M., Gusella, J. F. Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J. Med. Genet. 22: 447-450, 1985. [PubMed: 3001311] [Full Text: https://doi.org/10.1136/jmg.22.6.447]

  142. Harper, P. S. Localization of the gene for Huntington's chorea. Trends Neurosci. 7: 1-2, 1984.

  143. Harper, P. S. The epidemiology of Huntington's disease. Hum. Genet. 89: 365-376, 1992. [PubMed: 1535611] [Full Text: https://doi.org/10.1007/BF00194305]

  144. Hay, D. G., Sathasivam, K., Tobaben, S., Stahl, B., Marber, M., Mestril, R., Mahal, A., Smith, D. L., Woodman, B., Bates, G. P. Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as a therapeutic approach. Hum. Molec. Genet. 13: 1389-1405, 2004. [PubMed: 15115766] [Full Text: https://doi.org/10.1093/hmg/ddh144]

  145. Hayden, M. R., Beighton, P. Genetic aspects of Huntington's chorea: results of a national survey. Am. J. Med. Genet. 11: 135-141, 1982. [PubMed: 6461251] [Full Text: https://doi.org/10.1002/ajmg.1320110203]

  146. Hayden, M. R., Hewitt, J., Wasmuth, J. J., Kastelein, J. J., Langlois, S., Conneally, M., Haines, J., Smith, B., Hilbert, C., Allard, D. A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am. J. Hum. Genet. 42: 125-131, 1988. [PubMed: 2892395]

  147. Hayden, M. R., Martin, W. R. W., Stoessl, A. J., Clark, C., Hollenberg, S., Adam, M. J., Ammann, W., Harrop, R., Rogers, J., Ruth, T., Sayre, C., Pate, B. D. Positron emission tomography in the early diagnosis of Huntington's disease. Neurology 36: 888-894, 1986. [PubMed: 2940474] [Full Text: https://doi.org/10.1212/wnl.36.7.888]

  148. Hayden, M. R. Huntington's Chorea. Berlin and New York: Springer-Verlag (pub.) 1981.

  149. Hayes, C. V. Genetic testing for Huntington's disease--a family issue. (Editorial) New Eng. J. Med. 327: 1449-1451, 1992. [PubMed: 1406861] [Full Text: https://doi.org/10.1056/NEJM199211123272008]

  150. Heiser, V., Scherzinger, E., Boeddrich, A., Nordhoff, E., Lurz, R., Schugardt, N., Lehrach, H., Wanker, E. E. Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. Proc. Nat. Acad. Sci. 97: 6739-6744, 2000. [PubMed: 10829068] [Full Text: https://doi.org/10.1073/pnas.110138997]

  151. Helmlinger, D., Yvert, G., Picaud, S., Merienne, K., Sahel, J., Mandel, J.-L., Devys, D. Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Hum. Molec. Genet. 11: 3351-3359, 2002. [PubMed: 12471061] [Full Text: https://doi.org/10.1093/hmg/11.26.3351]

  152. Hilditch-Maguire, P., Trettel, F., Passani, L. A., Auerbach, A., Persichetti, F., MacDonald, M. E. Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum. Molec. Genet. 9: 2789-2797, 2000. [PubMed: 11092755] [Full Text: https://doi.org/10.1093/hmg/9.19.2789]

  153. Hockly, E., Richon, V. M., Woodman, B., Smith, D. L., Zhou, X., Rosa, E., Sathasivam, K., Ghazi-Noori, S., Mahal, A., Lowden, P. A. S., Steffan, J. S., Marsh, J. L., Thompson, L. M., Lewis, C. M., Marks, P. A., Bates, G. P. Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc. Nat. Acad. Sci. 100: 2041-2046, 2003. [PubMed: 12576549] [Full Text: https://doi.org/10.1073/pnas.0437870100]

  154. Hodge, S. E., Spence, M. A., Crandall, B. F., Sparkes, R. S., Sparkes, M. C., Crist, M., Tideman, S. Huntington disease: linkage analysis with age-of-onset corrections. Am. J. Med. Genet. 5: 247-254, 1980. [PubMed: 6447456] [Full Text: https://doi.org/10.1002/ajmg.1320050305]

  155. Hodgson, J. G., Agopyan, N., Gutekunst, C.-A., Leavitt, B. R., LePiane, F., Singaraja, R., Smith, D. J., Bissada, N., McCutcheon, K., Nasir, J., Jamot, L., Li, X.-J., Stevens, M. E., Rosemond, E., Roder, J. C., Phillips, A. G., Rubin, E. M., Hersch, S. M., Hayden, M. R. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23: 181-192, 1999. [PubMed: 10402204] [Full Text: https://doi.org/10.1016/s0896-6273(00)80764-3]

  156. Hoffmann, J. Uber Chorea chronica progressiva (Huntingtonsche Chorea, Chorea hereditaria). Virchows Arch. A 111: 513-548, 1888.

  157. Holmgren, G., Almqvist, E. W., Anvret, M., Conneally, M., Hobbs, W., Mattsson, B., Wahlstrom, J., Winblad, B., Gusella, J. F. Linkage of G8 (D4S10) in two Swedish families with Huntington's disease. Clin. Genet. 32: 289-294, 1987. [PubMed: 2961484] [Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb03292.x]

  158. Horton, T. M., Graham, B. H., Corral-Debrinski, M., Shoffner, J. M., Kaufman, A. E., Beal, M. F., Wallace, D. C. Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients. Neurology 45: 1879-1883, 1995. [PubMed: 7477986] [Full Text: https://doi.org/10.1212/wnl.45.10.1879]

  159. Humbert, S., Bryson, E. A., Cordelieres, F. P., Connors, N. C., Datta, S. R., Finkbeiner, S., Greenberg, M. E., Saudou, F. The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves huntingtin phosphorylation by Akt. Dev. Cell 2: 831-837, 2002. [PubMed: 12062094] [Full Text: https://doi.org/10.1016/s1534-5807(02)00188-0]

  160. Huntington, G. On chorea. Med. Surg. Reporter 26: 317-321, 1872.

  161. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983, 1993. [PubMed: 8458085] [Full Text: https://doi.org/10.1016/0092-8674(93)90585-e]

  162. Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S., Kakizuka, A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13: 196-202, 1996. [PubMed: 8640226] [Full Text: https://doi.org/10.1038/ng0696-196]

  163. Ikonen, E., Ignatius, J., Norio, R., Palo, J., Peltonen, L. Huntington disease in Finland: a molecular and genealogical study. Hum. Genet. 89: 275-280, 1992. [PubMed: 1351031] [Full Text: https://doi.org/10.1007/BF00220539]

  164. Illarioshkin, S. N., Igarashi, S., Onodera, O., Markova, E. D., Nikolskaya, N. N., Tanaka, H., Chabrashwili, T. Z., Insarova, N. G., Endo, K., Ivanova-Smolenskaya, I. A., Tsuji, S. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann. Neurol. 36: 630-635, 1994. [PubMed: 7944295] [Full Text: https://doi.org/10.1002/ana.410360412]

  165. Jacobsen, J. C., Bawden, C. S., Rudiger, S. R., McLaughlan, C. J., Reid, S. J., Waldvogel, H. J., MacDonald, M. E., Gusella, J. F., Walker, S. K., Kelly, J. M., Webb, G. C., Faull, R. L. M., Rees, M. I., Snell, R. G. An ovine transgenic Huntington's disease model. Hum. Molec. Genet. 19: 1873-1882, 2010. [PubMed: 20154343] [Full Text: https://doi.org/10.1093/hmg/ddq063]

  166. Jain, A., Vale, R. D. RNA phase transitions in repeat expansion disorders. Nature 546: 243-247, 2017. [PubMed: 28562589] [Full Text: https://doi.org/10.1038/nature22386]

  167. Jana, N. R., Zemskov, E. A., Wang, G., Nukina, N. Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. Hum. Molec. Genet. 10: 1049-1059, 2001. [PubMed: 11331615] [Full Text: https://doi.org/10.1093/hmg/10.10.1049]

  168. Jeong, H., Then, F., Melia, T. J., Jr., Mazzulli, J. R., Cui, L., Savas, J. N., Voisine, C., Paganetti, P., Tanese, N., Hart, A. C., Yamamoto, A., Krainc, D. Acetylation targets mutant huntintin (sic) to autophagosomes for degradation. Cell 137: 60-72, 2009. [PubMed: 19345187] [Full Text: https://doi.org/10.1016/j.cell.2009.03.018]

  169. Jiang, H., Nucifora, F. C., Jr., Ross, C. A., DeFranco, D. B. Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein. Hum. Molec. Genet. 12: 1-12, 2003. [PubMed: 12490527] [Full Text: https://doi.org/10.1093/hmg/ddg002]

  170. Kahlem, P., Green, H., Djian, P. Transglutaminase action imitates Huntington's disease: selective polymerization of huntingtin containing expanded polyglutamine. Molec. Cell 1: 595-601, 1998. [PubMed: 9660943] [Full Text: https://doi.org/10.1016/s1097-2765(00)80059-3]

  171. Kanazawa, I., Kondo, I., Ikeda, J.-E., Ikeda, T., Shizu, Y., Yoshida, M., Narabayashi, H., Kuroda, S., Tsunoda, H., Mizuta, E., Okuno, Y., Sugawara, K., Murata, M., Takahashi, M., Gusella, J. F. Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families. Hum. Genet. 85: 257-260, 1990. [PubMed: 1975553] [Full Text: https://doi.org/10.1007/BF00206741]

  172. Karpuj, M. V., Becher, M. W., Springer, J. E., Chabas, D., Youssef, S., Pedotti, R., Mitchell, D., Steinman, L. Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Nature Med. 8: 143-149, 2002. Note: Erratum: Nature Med. 8: 303 only, 2002. [PubMed: 11821898] [Full Text: https://doi.org/10.1038/nm0202-143]

  173. Kazantsev, A., Walker, H. A., Slepko, N., Bear, J. E., Preisinger, E., Steffan, J. S., Zhu, Y.-Z., Gertler, F. B., Housman, D. E., Marsh, J. L., Thompson, L. M. A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nature Genet. 30: 367-376, 2002. [PubMed: 11925563] [Full Text: https://doi.org/10.1038/ng864]

  174. Kazemi-Esfarjani, P., Benzer, S. Genetic suppression of polyglutamine toxicity in Drosophila. Science 287: 1837-1840, 2000. [PubMed: 10710314] [Full Text: https://doi.org/10.1126/science.287.5459.1837]

  175. Keene, C. D., Rodrigues, C. M. P., Eich, T., Chhabra, M. S., Steer, C. J., Low, W. C. Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease. Proc. Nat. Acad. Sci. 99: 10671-10676, 2002. [PubMed: 12149470] [Full Text: https://doi.org/10.1073/pnas.162362299]

  176. Keene, C. D., Rodrigues, C. M. P., Eich, T., Linehan-Stieers, C., Abt, A., Kren, B. T., Steer, C. J., Low, W. C. A bile acid protects against motor and cognitive deficits and reduces striatal degeneration in the 3-nitropropionic acid model of Huntington's disease. Exp. Neurol. 171: 351-360, 2001. [PubMed: 11573988] [Full Text: https://doi.org/10.1006/exnr.2001.7755]

  177. Kehoe, P., Krawczak, M., Harper, P. S., Owen, M. J., Jones, A. L. Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J. Med. Genet. 36: 108-111, 1999. [PubMed: 10051007]

  178. Kennedy, L., Shelbourne, P. F. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Molec. Genet. 9: 2539-2544, 2000. [PubMed: 11030759] [Full Text: https://doi.org/10.1093/hmg/9.17.2539]

  179. Kerbeshian, J., Burd, L., Leech, C., Rorabaugh, A. Huntington disease and childhood-onset Tourette syndrome. Am. J. Med. Genet. 39: 1-3, 1991. [PubMed: 1831007] [Full Text: https://doi.org/10.1002/ajmg.1320390102]

  180. Keum, J. W., Shin, A., Gillis, T., Mysore, J. S., Elneel, K. A., Lucente, D., Hadzi, T., Holmans, P., Jones, L., Orth, M., Kwak, S., MacDonald, M. E., Gusella, J. F., Lee, J.-M. The HTT CAG-expansion mutation determines age at death but not disease duration in Huntington disease. Am. J. Hum. Genet. 98: 287-298, 2016. [PubMed: 26849111] [Full Text: https://doi.org/10.1016/j.ajhg.2015.12.018]

  181. Khoshnan, A., Ko, J., Patterson, P. H. Effects of intracellular expression of anti-huntingtin antibodies of various specificities on mutant huntingtin aggregation and toxicity. Proc. Nat. Acad. Sci. 99: 1002-1007, 2002. [PubMed: 11792860] [Full Text: https://doi.org/10.1073/pnas.022631799]

  182. Kita, H., Carmichael, J., Swartz, J., Muro, S., Wyttenbach, A., Matsubara, K., Rubinsztein, D. C., Kato, K. Modulation of polyglutamine-induced cell death by genes identified by expression profiling. Hum. Molec. Genet. 11: 2279-2287, 2002. [PubMed: 12217956] [Full Text: https://doi.org/10.1093/hmg/11.19.2279]

  183. Klawans, H. L., Jr., Paulson, G. W., Ringel, S. P., Barbeau, A. L-dopa in the detection of presymptomatic Huntington's chorea. New Eng. J. Med. 286: 1332-1334, 1972. [PubMed: 4260358] [Full Text: https://doi.org/10.1056/NEJM197206222862503]

  184. Kloppel, S., Chu, C., Tan, G. C., Draganski, B., Johnson, H., Paulsen, J. S., Kienzle, W., Tabrizi, S. J., Ashburner, J., Frackowiak, R. S. J., PREDICT-HD Investigators of the Huntington Study Group. Automatic detection of preclinical neurodegeneration: presymptomatic Huntington disease. Neurology 72: 426-431, 2009. [PubMed: 19188573] [Full Text: https://doi.org/10.1212/01.wnl.0000341768.28646.b6]

  185. Kloppel, S., Draganski, B., Golding, C. V., Chu, C., Nagy, Z., Cook, P. A., Hicks, S. L., Kennard, C., Alexander, D. C., Parker, G. J. M., Tabrizi, S. J., Frackowiak, R. S. J. White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington's disease. Brain 131: 196-204, 2008. [PubMed: 18056161] [Full Text: https://doi.org/10.1093/brain/awm275]

  186. Ko, J., Ou, S., Patterson, P. H. New anti-huntingtin monoclonal antibodies: implications for huntingtin conformation and its binding proteins. Brain Res. Bull. 56: 319-329, 2001. [PubMed: 11719267] [Full Text: https://doi.org/10.1016/s0361-9230(01)00599-8]

  187. Kovtun, I. V., McMurray, C. T. Trinucleotide expansion in haploid germ cells by gap repair. Nature Genet. 27: 407-411, 2001. [PubMed: 11279522] [Full Text: https://doi.org/10.1038/86906]

  188. Kovtun, I. V., Thornhill, A. R., McMurray, C. T. Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Molec. Genet. 13: 3057-3068, 2004. [PubMed: 15496421] [Full Text: https://doi.org/10.1093/hmg/ddh325]

  189. Kremer, B., Goldberg, P., Andrew, S. E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E., Bird, T. D., Hayden, M. R. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. New Eng. J. Med. 330: 1401-1406, 1994. [PubMed: 8159192] [Full Text: https://doi.org/10.1056/NEJM199405193302001]

  190. Landegent, J. E., Jansen in de Wal, N., Fisser-Groen, Y. M., Bakker, E., van der Ploeg, M., Pearson, P. L. Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Hum. Genet. 73: 354-357, 1986. [PubMed: 2943662] [Full Text: https://doi.org/10.1007/BF00279100]

  191. Langbehn, D. R. Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease. Am. J. Hum. Genet. 109: 172-179, 2022. [PubMed: 34942093] [Full Text: https://doi.org/10.1016/j.ajhg.2021.12.002]

  192. Lanska, D. J., Lavine, L., Lanska, M. J., Schoenberg, B. S. Huntington's disease mortality in the United States. Neurology 38: 769-772, 1988. [PubMed: 2966305] [Full Text: https://doi.org/10.1212/wnl.38.5.769]

  193. Lazzarini, A., McCormack, M. K., Lepore, F. Maternal transmission of juvenile Huntington's disease in U.S. black families. (Abstract) Am. J. Hum. Genet. 36: 62S, 1984.

  194. Leavitt, B. R., Guttman, J. A., Hodgson, J. G., Kimel, G. H., Singaraja, R., Vogl, A. W., Hayden, M. R. Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am. J. Hum. Genet. 68: 313-324, 2001. [PubMed: 11133364] [Full Text: https://doi.org/10.1086/318207]

  195. Lee, J. M., MacDonald, M. E., Gusella, J. F. Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. (Letter) Am. J. Hum. Genet. 109: 1338-1340, 2022. [PubMed: 35803234] [Full Text: https://doi.org/10.1016/j.ajhg.2022.06.002]

  196. Lee, J. M., Ramos, E. M., Lee, J. H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., and 30 others. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 78: 690-695, 2012. [PubMed: 22323755] [Full Text: https://doi.org/10.1212/WNL.0b013e318249f683]

  197. Leung, C. M., Chan, Y. W., Chang, C. M., Yu, Y. L., Chen, C. N. Huntington's disease in Chinese: a hypothesis of its origin. J. Neurol. Neurosurg. Psychiat. 55: 681-684, 1992. [PubMed: 1388199] [Full Text: https://doi.org/10.1136/jnnp.55.8.681]

  198. Li, H., Li, S.-H., Johnston, H., Shelbourne, P. F., Li, X.-J. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nature Genet. 25: 385-389, 2000. [PubMed: 10932179] [Full Text: https://doi.org/10.1038/78054]

  199. Li, H., Wyman, T., Yu, Z.-X., Li, S.-H., Li, X.-J. Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release. Hum. Molec. Genet. 12: 2021-2030, 2003. [PubMed: 12913073] [Full Text: https://doi.org/10.1093/hmg/ddg218]

  200. Li, J.-L., Hayden, M. R., Almqvist, E. W., Brinkman, R. R., Durr, A., Dode, C., Morrison, P. J., Suchowersky, O., Ross, C. A., Margolis, R. L., Rosenblatt, A., Gomez-Tortosa, E., and 27 others. A genome scan for modifiers of age at onset in Huntington disease: the HD MAPS study. Am. J. Hum. Genet. 73: 682-687, 2003. [PubMed: 12900792] [Full Text: https://doi.org/10.1086/378133]

  201. Li, S.-H., Lam, S., Cheng, A. L., Li, X.-J. Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis. Hum. Molec. Genet. 9: 2859-2867, 2000. [PubMed: 11092762] [Full Text: https://doi.org/10.1093/hmg/9.19.2859]

  202. Li, Z., Wang, C., Wang, Z., Zhu, C., Li, J., Sha, T., Ma, L., Gao, C., Yang, Y., Sun, Y., Wang, J., Sun, X., and 9 others. Allele-selective lowering of mutant HTT protein by HTT-LC3 linker compounds. Nature 575: 203-209, 2019. [PubMed: 31666698] [Full Text: https://doi.org/10.1038/s41586-019-1722-1]

  203. Lievens, J.-C., Rival, T., Iche, M., Chneiweiss, H., Birman, S. Expanded polyglutamine peptides disrupt EGF receptor signaling and glutamate transporter expression in Drosophila. Hum. Molec. Genet. 14: 713-724, 2005. [PubMed: 15677486] [Full Text: https://doi.org/10.1093/hmg/ddi067]

  204. Lin, C.-H., Tallaksen-Greene, S., Chien, W.-M., Cearley, J. A., Jackson, W. S., Crouse, A. B., Ren, S., Li, X.-J., Albin, R. L., Detloff, P. J. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Molec. Genet. 10: 137-144, 2001. [PubMed: 11152661] [Full Text: https://doi.org/10.1093/hmg/10.2.137]

  205. Lindblad, A. N. To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder. Clin. Genet. 60: 442-446, 2001. [PubMed: 11846736] [Full Text: https://doi.org/10.1034/j.1399-0004.2001.600606.x]

  206. Lovestone, S., Hodgson, S., Sham, P., Differ, A.-M., Levy, R. Familial psychiatric presentation of Huntington's disease. J. Med. Genet. 33: 128-131, 1996. [PubMed: 8929949] [Full Text: https://doi.org/10.1136/jmg.33.2.128]

  207. Lunkes, A., Lindenberg, K. S., Ben-Haiem, L., Weber, C., Devys, D., Landwehrmeyer, G. B., Mandel, J.-L., Trottier, Y. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Molec. Cell 10: 259-269, 2002. [PubMed: 12191472] [Full Text: https://doi.org/10.1016/s1097-2765(02)00602-0]

  208. Lunkes, A., Mandel, J.-L. A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Molec. Genet. 7: 1355-1361, 1998. [PubMed: 9700187] [Full Text: https://doi.org/10.1093/hmg/7.9.1355]

  209. Luo, S., Mizuta, H., Rubinsztein, D. C. p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity. Hum. Molec. Genet. 17: 895-905, 2008. [PubMed: 18065495] [Full Text: https://doi.org/10.1093/hmg/ddm362]

  210. Luthi-Carter, R., Hanson, S. A., Strand, A. D., Bergstrom, D. A., Chun, W., Peters, N. L., Woods, A. M., Chan, E. Y., Kooperberg, C., Krainc, D., Young, A. B., Tapscott, S. J., Olson, J. M. Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain. Hum. Molec. Genet. 11: 1911-1926, 2002. [PubMed: 12165554] [Full Text: https://doi.org/10.1093/hmg/11.17.1911]

  211. Luthi-Carter, R., Strand, A. D., Hanson, S. A., Kooperberg, C., Schilling, G., La Spada, A. R., Merry, D. E., Young, A. B., Ross, C. A., Borchelt, D. R., Olson, J. M. Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum. Molec. Genet. 11: 1927-1937, 2002. [PubMed: 12165555] [Full Text: https://doi.org/10.1093/hmg/11.17.1927]

  212. Luthi-Carter, R., Strand, A., Peters, N. L., Solano, S. M., Hollingsworth, Z. R., Menon, A. S., Frey, A. S., Spektor, B. S., Penney, E. B., Schilling, G., Ross, C. A., Borchelt, D. R., Tapscott, S. J., Young, A. B., Cha, J.-H. J., Olson, J. M. Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum. Molec. Genet. 9: 1259-1271, 2000. [PubMed: 10814708] [Full Text: https://doi.org/10.1093/hmg/9.9.1259]

  213. Lyon, R. L. Huntington's chorea in the Moray Firth area. Brit. Med. J. 1: 1301-1306, 1962. [PubMed: 14467631] [Full Text: https://doi.org/10.1136/bmj.1.5288.1301]

  214. MacDonald, M. E., Cheng, S. V., Zimmer, M., Haines, J. L., Poustka, A., Allitto, B., Smith, B., Whaley, W. L., Romano, D. M., Jagadeesh, J., Myers, R. H., Lehrach, H., Wasmuth, J. J., Frischauf, A.-M., Gusella, J. F. Clustering of multiallele DNA markers near the Huntington's disease gene. J. Clin. Invest. 84: 1013-1016, 1989. [PubMed: 2569477] [Full Text: https://doi.org/10.1172/JCI114222]

  215. MacDonald, M. E., Haines, J. L., Zimmer, M., Cheng, S. V., Youngman, S., Whaley, W. L., Wexler, N., Bucan, M., Allitto, B. A., Smith, B., Leavitt, J., Poustka, A., Harper, P., Lehrach, H., Wasmuth, J. J., Frischauf, A.-M., Gusella, J. F. Recombination events suggest potential sites for the Huntington's disease gene. Neuron 3: 183-190, 1989. [PubMed: 2576211] [Full Text: https://doi.org/10.1016/0896-6273(89)90031-7]

  216. MacDonald, M. E., Novelletto, A., Lin, C., Tagle, D., Barnes, G., Bates, G., Taylor, S., Allitto, B., Altherr, M., Myers, R., Lehrach, H., Collins, F. S., Wasmuth, J. J., Frontali, M., Gusella, J. F. The Huntington's disease candidate region exhibits many different haplotypes. Nature Genet. 1: 99-103, 1992. [PubMed: 1302016] [Full Text: https://doi.org/10.1038/ng0592-99]

  217. MacDonald, M. E., Vonsattel, J. P., Shrinidhi, J., Couropmitree, N. N., Cupples, L. A., Bird, E. D., Gusella, J. F., Myers, R. H. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 53: 1330-1332, 1999. [PubMed: 10522893] [Full Text: https://doi.org/10.1212/wnl.53.6.1330]

  218. Magenis, E., Gusella, J., Weliky, K., Haight, G., Sheehy, B. Huntington disease-linked (HD) restriction fragment polymorphism localized to band p16 of chromosome 4 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 40: 685, 1985.

  219. Magenis, R. E., Gusella, J., Weliky, K., Olson, S., Haight, G., Toth-Fejel, S., Sheehy, R. Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. Am. J. Hum. Genet. 39: 383-391, 1986. [PubMed: 2876628]

  220. Maltsberger, J. T. Even unto the twelfth generation--Huntington's chorea. J. Hist. Med. Allied Sci. 16: 1-17, 1961. [PubMed: 13765951]

  221. Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M., Bates, G. P. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet. 15: 197-200, 1997. [PubMed: 9020849] [Full Text: https://doi.org/10.1038/ng0297-197]

  222. Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., Bates, G. P. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493-506, 1996. [PubMed: 8898202] [Full Text: https://doi.org/10.1016/s0092-8674(00)81369-0]

  223. Marcora, E., Kennedy, M. B. The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-kappa-B from the synapse to the nucleus. Hum. Molec. Genet. 19: 4373-4384, 2010. [PubMed: 20739295] [Full Text: https://doi.org/10.1093/hmg/ddq358]

  224. Marsh, J. L., Pallos, J., Thompson, L. M. Fly models of Huntington's disease. Hum. Molec. Genet. 12: R187-R193, 2003. [PubMed: 12925571] [Full Text: https://doi.org/10.1093/hmg/ddg271]

  225. Marshall, J., White, K., Weaver, M., Wetherill, L. F., Hui, S., Stout, J. C., Johnson, S. A., Beristain, X., Gray, J., Wojcieszek, J., Foroud, T. Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. Arch. Neurol. 64: 116-121, 2007. [PubMed: 17210818] [Full Text: https://doi.org/10.1001/archneur.64.1.116]

  226. Martin, J. B., Gusella, J. F. Huntington's disease: pathogenesis and management. New Eng. J. Med. 315: 1267-1276, 1986. [PubMed: 2877396] [Full Text: https://doi.org/10.1056/NEJM198611133152006]

  227. Marx, J. L. A parent's sex may affect gene expression. Science 239: 352-353, 1988. [PubMed: 3336789] [Full Text: https://doi.org/10.1126/science.3336789]

  228. Mason, R. P., Casu, M., Butler, N., Breda, C., Campesan, S., Clapp, J., Green, E. W., Dhulkhed, D., Kyriacou, C. P., Giorgini, F. Glutathione peroxidase activity is neuroprotective in models of Huntington's disease. Nature Genet. 45: 1249-1254, 2013. [PubMed: 23974869] [Full Text: https://doi.org/10.1038/ng.2732]

  229. Mastroberardino, P. G., Iannicola, C., Nardacci, R., Bernassola, F., de Laurenzi, V., Melino, G., Moreno, S., Pavone, F., Oliverio, S., Fesus, L., Piacentini, M. 'Tissue' transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease. Cell Death Differ. 9: 873-880, 2002. [PubMed: 12181738] [Full Text: https://doi.org/10.1038/sj.cdd.4401093]

  230. Mastromauro, C. A., Meissen, G. J., Cupples, L. A., Kiely, D. K., Berkman, B., Myers, R. H. Estimation of fertility and fitness in Huntington disease in New England. Am. J. Med. Genet. 33: 248-254, 1989. [PubMed: 2527461] [Full Text: https://doi.org/10.1002/ajmg.1320330222]

  231. Masuda, N., Goto, J., Murayama, N., Watanabe, M., Kondo, I., Kanazawa, I. Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J. Med. Genet. 32: 701-705, 1995. [PubMed: 8544189] [Full Text: https://doi.org/10.1136/jmg.32.9.701]

  232. Mazziotta, J. C., Phelps, M. E., Pahl, J. J., Huang, S.-C., Baxter, L. R., Riege, W. H., Hoffman, J. M., Kuhl, D. E., Lanto, A. B., Wapenski, J. A., Markham, C. H. Reduced cerebral glucose metabolism in asymptomatic subjects at risk for Huntington's disease. New Eng. J. Med. 316: 357-362, 1987. [PubMed: 2949152] [Full Text: https://doi.org/10.1056/NEJM198702123160701]

  233. McKeown, C., Read, A. P., Dodge, A., Stecko, O., Mercer, A., Harris, R. Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. J. Med. Genet. 24: 410-412, 1987. [PubMed: 3612716] [Full Text: https://doi.org/10.1136/jmg.24.7.410]

  234. McLaughlin, B. A., Spencer, C., Eberwine, J. CAG trinucleotide RNA repeats interact with RNA-binding proteins. Am. J. Hum. Genet. 59: 561-569, 1996. [PubMed: 8751857]

  235. Meissen, G. J., Myers, R. H., Mastromauro, C. A., Koroshetz, W. J., Klinger, K. W., Farrer, L. A., Watkins, P. A., Gusella, J. F., Bird, E. D., Martin, J. B. Predictive testing for Huntington's disease with use of a linked DNA marker. New Eng. J. Med. 318: 535-542, 1988. [PubMed: 2893260] [Full Text: https://doi.org/10.1056/NEJM198803033180903]

  236. Metzger, S., Rong, J., Nguyen, H.-P., Cape, A., Tomiuk, J., Soehn, A. S., Propping, P., Freudenberg-Hua, Y., Freudenberg, J., Tong, L., Li, S.-H., Li, X.-J., Riess, O. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum. Molec. Genet. 17: 1137-1146, 2008. [PubMed: 18192679] [Full Text: https://doi.org/10.1093/hmg/ddn003]

  237. Millan, F. A., Curtis, A., Mennie, M., Holloway, S., Boxer, M., Faed, M. J. W., Crawford, J. W., Liston, W. A., Brock, D. J. H. Prenatal exclusion testing for Huntington's disease: a problem of too much information. J. Med. Genet. 26: 83-85, 1989. [PubMed: 2563777] [Full Text: https://doi.org/10.1136/jmg.26.2.83]

  238. Miller, L. C., Swayne, L. A., Chen, L., Feng, Z.-P., Wacker, J. L., Muchowski, P. J., Zamponi, G. W., Braun, J. E. A. Cysteine string protein (CSP) inhibition of N-type calcium channels is blocked by mutant huntingtin. J. Biol. Chem. 278: 53072-53081, 2003. [PubMed: 14570907] [Full Text: https://doi.org/10.1074/jbc.M306230200]

  239. Milunsky, J. M., Maher, T. A., Loose, B. A., Darras, B. T., Ito, M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin. Genet. 64: 70-73, 2003. [PubMed: 12791042] [Full Text: https://doi.org/10.1034/j.1399-0004.2003.00108.x]

  240. Mochizuki, H., Kamakura, K., Kumada, M., Goto, J., Kanazawa, I., Motoyoshi, K. A patient with Huntington's disease presenting with laryngeal chorea. Europ. Neurol. 41: 119-120, 1999. [PubMed: 10023121] [Full Text: https://doi.org/10.1159/000008019]

  241. Modregger, J., DiProspero, N.A., Charles, V., Tagle, D.A., Plomann, M. PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains. Hum. Molec. Genet. 11: 2547-2558, 2002. [PubMed: 12354780] [Full Text: https://doi.org/10.1093/hmg/11.21.2547]

  242. Morris, M. J., Tyler, A., Lazarou, L., Meredith, L., Harper, P. S. Problems in genetic prediction for Huntington's disease. Lancet 334: 601-603, 1989. Note: Originally Volume II. Note: Erratum: Lancet 334: 756 only, 1989. [PubMed: 2570292] [Full Text: https://doi.org/10.1016/s0140-6736(89)90721-6]

  243. Morrison, P. J., Johnston, W. P., Nevin, N. C. The epidemiology of Huntington's disease in Northern Ireland. J. Med. Genet. 32: 524-530, 1995. [PubMed: 7562964] [Full Text: https://doi.org/10.1136/jmg.32.7.524]

  244. Mouchiroud, D., D'Onofrio, G., Aissani, B., Macaya, G., Gautier, C., Bernardi, G. The distribution of genes in the human genome. Gene 100: 181-187, 1991. [PubMed: 2055469] [Full Text: https://doi.org/10.1016/0378-1119(91)90364-h]

  245. Muchowski, P. J., Ning, K., D'Souza-Schorey, C., Fields, S. Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment. Proc. Nat. Acad. Sci. 99: 727-732, 2002. [PubMed: 11792857] [Full Text: https://doi.org/10.1073/pnas.022628699]

  246. Mugat, B., Parmentier, M.-L., Bonneaud, N., Chan, H. Y. E., Maschat, F. Protective role of engrailed in a Drosophila model of Huntington's disease. Hum. Molec. Genet. 17: 3601-3616, 2008. [PubMed: 18718937] [Full Text: https://doi.org/10.1093/hmg/ddn255]

  247. Myers, R. H., Cupples, L. A., Schoenfeld, M., D'Agostino, R. B., Terrin, N. C., Goldmakher, N., Wolf, P. A. Maternal factors in onset of Huntington disease. Am. J. Hum. Genet. 37: 511-523, 1985. [PubMed: 3159258]

  248. Myers, R. H., Goldman, D., Bird, E. D., Sax, D. S., Merril, C. R., Schoenfeld, M., Wolf, P. A. Maternal transmission in Huntington's disease. Lancet 321: 208-210, 1983. Note: Originally Volume I. [PubMed: 6130245] [Full Text: https://doi.org/10.1016/s0140-6736(83)92587-4]

  249. Myers, R. H., Leavitt, J., Farrer, L. A., Jagadeesh, J., McFarlane, H., Mastromauro, C. A., Mark, R. J., Gusella, J. F. Homozygote for Huntington disease. Am. J. Hum. Genet. 45: 615-618, 1989. [PubMed: 2535231]

  250. Myers, R. H., Madden, J. J., Teague, J. L., Falek, A. Factors related to onset age of Huntington disease. Am. J. Hum. Genet. 34: 481-488, 1982. [PubMed: 6211092]

  251. Myrianthopoulos, N. C. Huntington's chorea. J. Med. Genet. 3: 298-314, 1966. [PubMed: 16178092] [Full Text: https://doi.org/10.1136/jmg.3.4.298]

  252. Nagai, N., Fujikake, N., Ohno, K., Higashiyama, H., Popiel, H. A., Rahadian, J., Yamaguchi, M., Strittmatter, W. J., Burke, J. R., Toda, T. Prevention of polyglutamine oligomerization and neurodegeneration by the peptide inhibitor QBP1 in Drosophila. Hum. Molec. Genet. 12: 1253-1260, 2003. [PubMed: 12761040] [Full Text: https://doi.org/10.1093/hmg/ddg144]

  253. Nagai, Y., Tucker, T., Ren, H., Kenan, D. J., Henderson, B. S., Keene, J. D., Strittmatter, W. J., Burke, J. R. Inhibition of polyglutamine protein aggregation and cell death by novel peptides identified by phage display screening. J. Biol. Chem. 275: 10437-10442, 2000. [PubMed: 10744733] [Full Text: https://doi.org/10.1074/jbc.275.14.10437]

  254. Nahhas, F. A., Garbern, J., Krajewski, K. M., Roa, B. B., Feldman, G. L. Juvenile onset Huntington disease resulting from a very large maternal expansion. Am. J. Med. Genet. 137A: 328-331, 2005. [PubMed: 16096998] [Full Text: https://doi.org/10.1002/ajmg.a.30891]

  255. Nance, M. A., Myers, R. H. Juvenile onset Huntington's disease--clinical and research perspectives. Ment. Retard. Dev. Disabil. Res. Rev. 7: 153-157, 2001. [PubMed: 11553930] [Full Text: https://doi.org/10.1002/mrdd.1022]

  256. Narain, Y., Wyttenbach, A., Rankin, J., Furlong, R. A., Rubinsztein, D. C. A molecular investigation of true dominance in Huntington's disease. J. Med. Genet. 36: 739-746, 1999. [PubMed: 10528852] [Full Text: https://doi.org/10.1136/jmg.36.10.739]

  257. Navarrete, C., Martinez, I., Salamanca, F. Paternal line of transmission in chorea of Huntington with very early onset. Genet. Counsel. 5: 175-178, 1994. [PubMed: 7917128]

  258. Norremolle, A., Hasholt, L., Petersen, C. B., Eiberg, H., Hasselbalch, S. G., Gideon, P., Nielsen, J. E., Sorensen, S. A. Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins. Am. J. Med. Genet. 130A: 154-159, 2004. [PubMed: 15372528] [Full Text: https://doi.org/10.1002/ajmg.a.30128]

  259. Okamoto, S., Pouladi, M. A., Talantova, M., Yao, D., Xia, P., Ehrnhoefer, D. E., Zaidi, R., Clemente, A., Kaul, M., Graham, R. K., Zhang, D., Chen, H.-S. V., Tong, G., Hayden, M. R., Lipton, S. A. Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. Nature Med. 15: 1407-1413, 2009. [PubMed: 19915593] [Full Text: https://doi.org/10.1038/nm.2056]

  260. Ona, V. O., Li, M., Vonsattel, J. P. G., Andrews, L. J., Khan, S. Q., Chung, W. M., Frey, A. S., Menon, A. S., Li, X.-J., Stieg, P. E., Yuan, J., Penney, J. B., Young, A. B., Cha, J.-H. J., Friedlander, R. M. Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 399: 263-267, 1999. [PubMed: 10353249] [Full Text: https://doi.org/10.1038/20446]

  261. Ordway, J. M., Tallaksen-Greene, S., Gutekunst, C.-A., Bernstein, E. M., Cearley, J. A., Wiener, H. W., Dure, L. S., IV, Lindsey, R., Hersch, S. M., Jope, R. S., Albin, R. L., Detloff, P. J. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91: 753-763, 1997. [PubMed: 9413985] [Full Text: https://doi.org/10.1016/s0092-8674(00)80464-x]

  262. Orr, H. T., Zoghbi, H. Y. Reversing neurodegeneration: a promise unfolds. Cell 101: 1-4, 2000. [PubMed: 10778849] [Full Text: https://doi.org/10.1016/S0092-8674(00)80617-0]

  263. Osler, W. Remarks on the varieties of chronic chorea, and a report upon two families of the hereditary form, with one autopsy. J. Nerv. Ment. Dis. 18: 97-111, 1893.

  264. Palo, J., Somer, H., Ikonen, E., Karila, L., Peltonen, L. Low prevalence of Huntington's disease in Finland. Lancet 330: 805-806, 1987. Note: Originally Volume II. [PubMed: 2889026] [Full Text: https://doi.org/10.1016/s0140-6736(87)92545-1]

  265. Panas, M., Karadima, G., Markianos, M., Kalfakis, N., Vassilopoulos, D. Phenotypic discordance in a pair of monozygotic twins with Huntington's disease. (Letter) Clin. Genet. 74: 291-292, 2008. [PubMed: 18616735] [Full Text: https://doi.org/10.1111/j.1399-0004.2008.01036.x]

  266. Panov, A. V., Gutekunst, C.-A., Leavitt, B. R., Hayden, M. R., Burke, J. R., Strittmatter, W. J., Greenamyre, J. T. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nature Neurosci. 5: 731-736, 2002. [PubMed: 12089530] [Full Text: https://doi.org/10.1038/nn884]

  267. Parrish, J. E., Nelson, D. L. Methods for finding genes: a major rate-limiting step in positional cloning. Genet. Anal. Tech. Appl. 10: 29-41, 1993. [PubMed: 8217302] [Full Text: https://doi.org/10.1016/1050-3862(93)90043-i]

  268. Paul, B. D., Sbodio, J. I., Xu, R., Vandiver, M. S., Cha, J. Y., Snowman, A. M., Snyder, S. H. Cystathionine gamma-lyase deficiency mediates neurodegeneration in Huntington's disease. Nature 509: 96-100, 2014. [PubMed: 24670645] [Full Text: https://doi.org/10.1038/nature13136]

  269. Paulsen, J. S., Magnotta, V. A., Mikos, A. E., Paulson, H. L., Penziner, E., Andreasen, N. C., Nopoulos, P. C. Brain structure in preclinical Huntington's disease. Biol. Psychiat. 59: 57-63, 2006. [PubMed: 16112655] [Full Text: https://doi.org/10.1016/j.biopsych.2005.06.003]

  270. Paulson, H. L., Bonini, N. M., Roth, K. A. Polyglutamine disease and neuronal cell death. Proc. Nat. Acad. Sci. 97: 12957-12958, 2000. [PubMed: 11058149] [Full Text: https://doi.org/10.1073/pnas.210395797]

  271. Peel, A. L., Rao, R. V., Cottrell, B. A., Hayden, M. R., Ellerby, L. M., Bredesen, D. E. Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum. Molec. Genet. 10: 1531-1538, 2001. [PubMed: 11468270] [Full Text: https://doi.org/10.1093/hmg/10.15.1531]

  272. Pericak-Vance, M. A., Conneally, P. M., Merritt, A. D., Roos, R., Norton, J. A., Jr., Vance, J. M. Genetic linkage studies in Huntington disease. Cytogenet. Cell Genet. 22: 640-645, 1978. [PubMed: 156628] [Full Text: https://doi.org/10.1159/000131042]

  273. Perry, T. L., Hansen, S., Kloster, M. Huntington's chorea: deficiency of gamma-aminobutyric acid in brain. New Eng. J. Med. 288: 337-342, 1973. [PubMed: 4345566] [Full Text: https://doi.org/10.1056/NEJM197302152880703]

  274. Petersen, A., Gil, J., Maat-Schieman, M. L. C., Bjorkqvist, M., Tanila, H., Araujo, I. M., Smith, R., Popovic, N., Wierup, N., Norlen, P., Li, J.-Y., Roos, R. A. C., Sundler, F., Mulder, H., Brundin, P. Orexin loss in Huntington's disease. Hum. Molec. Genet. 14: 39-47, 2005. [PubMed: 15525658] [Full Text: https://doi.org/10.1093/hmg/ddi004]

  275. Petersen, A., Larsen, K. E., Behr, G. G., Romero, N., Przedborski, S., Brundin, P., Sulzer, D. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum. Molec. Genet. 10: 1243-1254, 2001. [PubMed: 11406606] [Full Text: https://doi.org/10.1093/hmg/10.12.1243]

  276. Peyser, C. E., Folstein, M., Chase, G. A., Starkstein, S., Brandt, J., Cockrell, J. R., Bylsma, F., Coyle, J. T., McHugh, P. R., Folstein, S. E. Trial of d-alpha-tocopherol in Huntington's disease. Am. J. Psychiat. 152: 1771-1775, 1995. [PubMed: 8526244] [Full Text: https://doi.org/10.1176/ajp.152.12.1771]

  277. Phan, J., Hickey, M. A., Zhang, P., Chesselet, M.-F., Reue, K. Adipose tissue dysfunction tracks disease progression in two Huntington's disease mouse models. Hum. Molec. Genet. 18: 1006-1016, 2009. [PubMed: 19124532] [Full Text: https://doi.org/10.1093/hmg/ddn428]

  278. Poirier, M. A., Jiang, H., Ross, C. A. A structure-based analysis of huntingtin mutant polyglutamine aggregation and toxicity: evidence for a compact beta-sheet structure. Hum. Molec. Genet. 14: 765-774, 2005. [PubMed: 15689354] [Full Text: https://doi.org/10.1093/hmg/ddi071]

  279. Portera-Cailliau, C., Hedreen, J. C., Price, D. L., Koliatsos, V. E. Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models. J. Neurosci. 15: 3775-3787, 1995. [PubMed: 7751945] [Full Text: https://doi.org/10.1523/JNEUROSCI.15-05-03775.1995]

  280. Pouladi, M. A., Xie, Y., Skotte, N. H., Ehrnhoefer, D. E., Graham, R. K., Kim, J. E., Bissada, N., Yang, X. W., Paganetti, P., Friedlander, R. M., Leavitt, B. R., Hayden, M. R. Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. Hum. Molec. Genet. 19: 1528-1538, 2010. [PubMed: 20097678] [Full Text: https://doi.org/10.1093/hmg/ddq026]

  281. Pridmore, S. A. The large Huntington's disease family of Tasmania. Med. J. Aust. 153: 593-595, 1990. [PubMed: 2146466] [Full Text: https://doi.org/10.5694/j.1326-5377.1990.tb126270.x]

  282. Qin, Z.-H., Wang, Y., Kegel, K. B., Kazantsev, A., Apostol, B. L., Thompson, L. M., Yoder, J., Aronin, N., DiFiglia, M. Autophagy regulates the processing of amino terminal huntingtin fragments. Hum. Molec. Genet. 12: 3231-3244, 2003. [PubMed: 14570716] [Full Text: https://doi.org/10.1093/hmg/ddg346]

  283. Quarrell, O. W. J., Meredith, A. L., Tyler, A., Youngman, S., Upadhyaya, M., Harper, P. S. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet 329: 1281-1283, 1987. Note: Originally Volume I. [PubMed: 2884411] [Full Text: https://doi.org/10.1016/s0140-6736(87)90541-1]

  284. Quarrell, O. W. J., Tyler, A., Cole, G., Harper, P. S. The problem of isolated cases of Huntington's disease in South Wales 1974-1984. Clin. Genet. 30: 433-439, 1986. [PubMed: 2948738] [Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01903.x]

  285. Quarrell, O. W. J., Tyler, A., Jones, M. P., Nordin, M., Harper, P. S. Population studies of Huntington's disease in Wales. Clin. Genet. 33: 189-195, 1988. [PubMed: 2966022] [Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03436.x]

  286. Quintanilla, R. A., Jin, Y. N., Fuenzalida, K., Bronfman, M., Johnson, G. V. W. Rosiglitazone treatment prevents mitochondrial dysfunction in mutant huntingtin-expressing cells: possible role of peroxisome proliferator-activated receptor-gamma (PPARgamma) in the pathogenesis of Huntington disease. J. Biol. Chem. 283: 25628-25637, 2008. [PubMed: 18640979] [Full Text: https://doi.org/10.1074/jbc.M804291200]

  287. Ranen, N. G., Stine, O. C., Abbott, M. H., Sherr, M., Codori, A.-M., Franz, M. L., Chao, N. I., Chung, A. S., Pleasant, N., Callahan, C., Kasch, L. M., Ghaffari, M., Chase, G. A., Kazazian, H. H., Brandt, J., Folstein, S. E., Ross, C. A. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am. J. Hum. Genet. 57: 593-602, 1995. [PubMed: 7668287]

  288. Ravikumar, B., Duden, R., Rubinsztein, D. C. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Molec. Genet. 11: 1107-1117, 2002. [PubMed: 11978769] [Full Text: https://doi.org/10.1093/hmg/11.9.1107]

  289. Ravikumar, B., Stewart, A., Kita, H., Kato, K., Duden, R., Rubinsztein, D. C. Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy. Hum. Molec. Genet. 12: 985-994, 2003. [PubMed: 12700167] [Full Text: https://doi.org/10.1093/hmg/ddg109]

  290. Ravikumar, B., Vacher, C., Berger, Z., Davies, J. E., Luo, S., Oroz, L. G., Scaravilli, F., Easton, D. F., Duden, R., O'Kane, C. J., Rubinsztein, D. C. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nature Genet. 36: 585-596, 2004. [PubMed: 15146184] [Full Text: https://doi.org/10.1038/ng1362]

  291. Read, A. P. Huntington's disease: testing the test. Nature Genet. 4: 329-330, 1993. [PubMed: 8401575] [Full Text: https://doi.org/10.1038/ng0893-329]

  292. Reddy, P. H., Williams, M., Charles, V., Garrett, L., Pike-Buchanan, L., Whetsell, W. O., Jr., Miller, G., Tagle, D. A. Behavioral abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nature Genet. 20: 198-202, 1998. [PubMed: 9771716] [Full Text: https://doi.org/10.1038/2510]

  293. Reddy, P. H., Williams, M., Tagle, D. A. Recent advances in understanding the pathogenesis of Huntington's disease. Trends Neurosci. 22: 248-255, 1999. [PubMed: 10354600] [Full Text: https://doi.org/10.1016/s0166-2236(99)01415-0]

  294. Reed, T. E., Chandler, J. H. Huntington's chorea in Michigan. I. Demography and genetics. Am. J. Hum. Genet. 10: 201-225, 1958. [PubMed: 13533397]

  295. Reed, T. E., Neel, J. V. Huntington's chorea in Michigan. II. Selection and mutation. Am. J. Hum. Genet. 11: 107-136, 1959. [PubMed: 13661148]

  296. Reik, W., Collick, A., Norris, M. L., Barton, S. C., Surani, M. A. Genomic imprinting determines methylation of parental alleles in transgenic mice. Nature 328: 248-251, 1987. [PubMed: 3600805] [Full Text: https://doi.org/10.1038/328248a0]

  297. Reik, W. Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. J. Med. Genet. 25: 805-808, 1988. [PubMed: 2976840] [Full Text: https://doi.org/10.1136/jmg.25.12.805]

  298. Reik, W. Genomic imprinting and genetic disorders in man. Trends Genet. 5: 331-336, 1989. [PubMed: 2692240] [Full Text: https://doi.org/10.1016/0168-9525(89)90138-8]

  299. Reiner, A., Albin, R. L., Anderson, K. D., D'Amato, C. J., Penney, J. B., Young, A. B. Differential loss of striatal projection neurons in Huntington disease. Proc. Nat. Acad. Sci. 85: 5733-5737, 1988. [PubMed: 2456581] [Full Text: https://doi.org/10.1073/pnas.85.15.5733]

  300. Ribai, P., Nguyen, K., Hahn-Barma, V., Gourfinkel-An, I., Vidailhet, M., Legout, A., Dode, C., Brice, A., Durr, A. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch. Neurol. 64: 813-819, 2007. [PubMed: 17562929] [Full Text: https://doi.org/10.1001/archneur.64.6.813]

  301. Richfield, E. K., Herkenham, M. Selective vulnerability in Huntington's disease: preferential loss of cannabinoid receptors in lateral globus pallidus. Ann. Neurol. 36: 577-584, 1994. [PubMed: 7944290] [Full Text: https://doi.org/10.1002/ana.410360406]

  302. Ridley, R. M., Frith, C. D., Crow, T. J., Conneally, P. M. Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J. Med. Genet. 25: 589-595, 1988. [PubMed: 2972838] [Full Text: https://doi.org/10.1136/jmg.25.9.589]

  303. Ridley, R. M., Frith, C. D., Farrer, L. A., Conneally, P. M. Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J. Med. Genet. 28: 224-231, 1991. [PubMed: 1830339] [Full Text: https://doi.org/10.1136/jmg.28.4.224]

  304. Robbins, C., Theilmann, J., Youngman, S., Haines, J., Altherr, M. J., Harper, P. S., Payne, C., Junker, A., Wasmuth, J., Hayden, M. R. Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am. J. Hum. Genet. 44: 422-425, 1989. [PubMed: 2521771]

  305. Rosenberg, N. K., Sorensen, S. A., Christensen, A.-L. Neuropsychological characteristics of Huntington's disease carriers: a double blind study. J. Med. Genet. 32: 600-604, 1995. [PubMed: 7473650] [Full Text: https://doi.org/10.1136/jmg.32.8.600]

  306. Rosenblatt, A., Brinkman, R. R., Liang, K. Y., Almqvist, E. W., Margolis, R. L., Huang, C. Y., Sherr, M., Franz, M. L., Abbott, M. H., Hayden, M. R., Ross, C. A. Familial influence on age of onset among siblings with Huntington disease. Am. J. Med. Genet. 105: 399-403, 2001. [PubMed: 11449389] [Full Text: https://doi.org/10.1002/ajmg.1400]

  307. Roses, A. D. From genes to mechanisms to therapies: lessons to be learned from neurological disorders. Nature Med. 2: 267-269, 1996. [PubMed: 8612215] [Full Text: https://doi.org/10.1038/nm0396-267]

  308. Ruan, Q., Lesort, M., MacDonald, M. E., Johnson, G. V. W. Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway. Hum. Molec. Genet. 13: 669-681, 2004. [PubMed: 14962977] [Full Text: https://doi.org/10.1093/hmg/ddh082]

  309. Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S., Ramesar, R. S., Old, J., Bontrop, R., McMahon, R., Barton, D. E., Ferguson-Smith, M. A. Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7: 525-530, 1994. [PubMed: 7951324] [Full Text: https://doi.org/10.1038/ng0894-525]

  310. Rubinsztein, D. C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V., Cassiman, J.-J., Chotai, K., Connarty, M., Craufurd, D., Curtis, A., Curtis, D., Davidson, M. J., and 25 others. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59: 16-22, 1996. [PubMed: 8659522]

  311. Sabl, J. F., Laird, C. D. Epigene conversion: a proposal with implications for gene mapping in humans. Am. J. Hum. Genet. 50: 1171-1177, 1992. [PubMed: 1534643]

  312. Saccone, S., De Sario, A., Della Valle, G., Bernardi, G. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc. Nat. Acad. Sci. 89: 4913-4917, 1992. [PubMed: 1594593] [Full Text: https://doi.org/10.1073/pnas.89.11.4913]

  313. Sakazume, S., Yoshinari, S., Oguma, E., Utsuno, E., Ishii, T., Narumi, Y., Shiihara, T., Ohashi, H. A patient with early onset Huntington disease and severe cerebellar atrophy. Am. J. Med. Genet. 149A: 598-601, 2009. [PubMed: 19253382] [Full Text: https://doi.org/10.1002/ajmg.a.32707]

  314. Sanchez, I., Mahlke, C., Yuan, J. Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 421: 373-379, 2003. [PubMed: 12540902] [Full Text: https://doi.org/10.1038/nature01301]

  315. Sang, T.-K., Li, C., Liu, W., Rodriguez, A., Abrams, J. M., Zipursky, S. L., Jackson, G. R. Inactivation of Drosophila Apaf-1 related killer suppresses formation of polyglutamine aggregates and blocks polyglutamine pathogenesis. Hum. Molec. Genet. 14: 357-372, 2005. [PubMed: 15590702] [Full Text: https://doi.org/10.1093/hmg/ddi032]

  316. Sapienza, C., Peterson, A. C., Rossant, J., Balling, R. Degree of methylation of transgenes is independent of gamete of origin. Nature 328: 251-254, 1987. [PubMed: 3600806] [Full Text: https://doi.org/10.1038/328251a0]

  317. Sapp, E., Ge, P., Aizawa, H., Bird, E., Penney, J., Young, A. B., Vonsattel, J.-P., DiFiglia, M. Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysis. Neuroscience 64: 397-404, 1995. [PubMed: 7535402] [Full Text: https://doi.org/10.1016/0306-4522(94)00427-7]

  318. Sassone, F., Margulets, V., Maraschi, A., Rodighiero, S., Passafaro, M., Silani, V., Ciammola, A., Kirshenbaum, L. A., Sassone, J. Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin. Hum. Molec. Genet. 24: 6530-6539, 2015. [PubMed: 26358776] [Full Text: https://doi.org/10.1093/hmg/ddv362]

  319. Sathasivam, K., Hobbs, C., Turmaine, M., Mangiarini, L., Mahal, A., Bertaux, F., Wanker, E. E., Doherty, P., Davies, S. W., Bates, G. P. Formation of polyglutamine inclusions in non-CNS tissue. Hum. Molec. Genet. 8: 813-822, 1999. [PubMed: 10196370] [Full Text: https://doi.org/10.1093/hmg/8.5.813]

  320. Sathasivam, K., Woodman, B., Mahal, A., Bertaux, F., Wanker, E. E., Shima, D. T., Bates, G. P. Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients. Hum. Molec. Genet. 10: 2425-2435, 2001. [PubMed: 11689489] [Full Text: https://doi.org/10.1093/hmg/10.21.2425]

  321. Saudou, F., Finkbeiner, S., Devys, D., Greenberg, M. E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95: 55-66, 1998. [PubMed: 9778247] [Full Text: https://doi.org/10.1016/s0092-8674(00)81782-1]

  322. Sax, D. S., Bird, E. D., Gusella, J. F., Myers, R. H. Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. Neurology 39: 1332-1336, 1989. [PubMed: 2529452] [Full Text: https://doi.org/10.1212/wnl.39.10.1332]

  323. Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., Wanker, E. E. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90: 549-558, 1997. [PubMed: 9267034] [Full Text: https://doi.org/10.1016/s0092-8674(00)80514-0]

  324. Scherzinger, E., Sittler, A., Schweiger, K., Heiser, V., Lurz, R., Hasenbank, R., Bates, G. P., Lehrach, H., Wanker, E. E. Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology. Proc. Nat. Acad. Sci. 96: 4604-4609, 1999. [PubMed: 10200309] [Full Text: https://doi.org/10.1073/pnas.96.8.4604]

  325. Schilling, G., Becher, M. W., Sharp, A. H., Jinnah, H. A., Duan, K., Kotzuk, J. A., Slunt, H. H., Ratovitski, T., Cooper, J. K., Jenkins, N. A., Copeland, N. G., Price, D. L., Ross, C. A., Borchelt, D. R. Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum. Molec. Genet. 8: 397-407, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999. [PubMed: 9949199] [Full Text: https://doi.org/10.1093/hmg/8.3.397]

  326. Schilling, G., Savonenko, A. V., Klevytska, A., Morton, J. L., Tucker, S. M., Poirier, M., Gale, A., Chan, N., Gonzales, V., Slunt, H. H., Coonfield, M. L., Jenkins, N. A., Copeland, N. G., Ross, C. A., Borchett, D. R. Nuclear-targeting of mutant huntingtin fragments produces Huntington's disease-like phenotypes in transgenic mice. Hum. Molec. Genet. 13: 1599-1610, 2004. [PubMed: 15190011] [Full Text: https://doi.org/10.1093/hmg/ddh175]

  327. Schultz, J. L., Saft, C., Nopoulos, P. C. Association of CAG repeat length in the Huntington gene with cognitive performance in young adults. Neurology 96: e2407-e2413, 2021. [PubMed: 33692166] [Full Text: https://doi.org/10.1212/WNL.0000000000011823]

  328. Schwarcz, R., Okuno, E., White, R. J., Bird, E. D., Whetsell, W. O., Jr. 3-Hydroxyanthranilate oxygenase activity is increased in the brains of Huntington disease victims. Proc. Nat. Acad. Sci. 85: 4079-4081, 1988. [PubMed: 2967497] [Full Text: https://doi.org/10.1073/pnas.85.11.4079]

  329. Scrimgeour, E. M., Samman, Y., Brock, D. J. H. Huntington's disease in a Sudanese family from Khartoum. Hum. Genet. 96: 624-625, 1995. [PubMed: 8530016] [Full Text: https://doi.org/10.1007/BF00197424]

  330. Scrimgeour, E. M. Possible introduction of Huntington's chorea into Pacific Islands by New England whalemen. Am. J. Med. Genet. 15: 607-613, 1983. [PubMed: 6225337] [Full Text: https://doi.org/10.1002/ajmg.1320150410]

  331. Semaka, A., Collins, J. A., Hayden, M. R. Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles). Am. J. Med. Genet. 153B: 314-320, 2010. [PubMed: 19455596] [Full Text: https://doi.org/10.1002/ajmg.b.30970]

  332. Seong, I. S., Ivanova, E., Lee, J.-M., Choo, Y. S., Fossale, E., Anderson, M., Gusella, J. F., Laramie, J. M., Myers, R. H., Lesort, M., MacDonald, M. E. HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum. Molec. Genet. 14: 2871-2880, 2005. [PubMed: 16115812] [Full Text: https://doi.org/10.1093/hmg/ddi319]

  333. Shelbourne, P. F., Keller-McGandy, C., Bi, W. L., Yoon, S.-R., Dubeau, L., Veitch, N. J., Vonsattel, J. P., Wexler, N. S., The US-Venezuela Collaborative Research Group, Arnheim, N., Augood, S. J. Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum. Molec. Genet. 16: 1133-1142, 2007. [PubMed: 17409200] [Full Text: https://doi.org/10.1093/hmg/ddm054]

  334. Shelbourne, P. F., Killeen, N., Hevner, R. F., Johnston, H. M., Tecott, L., Lewandoski, M., Ennis, M., Ramirez, L., Li, Z., Iannicola, C., Littman, D. R., Myers, R. M. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Molec. Genet. 8: 763-774, 1999. [PubMed: 10196365] [Full Text: https://doi.org/10.1093/hmg/8.5.763]

  335. Shiwach, R. S., Norbury, C. G. A controlled psychiatric study of individuals at risk for Huntington's disease. Brit. J. Psychiat. 165: 500-505, 1994. [PubMed: 7804665] [Full Text: https://doi.org/10.1192/bjp.165.4.500]

  336. Shiwach, R. Psychopathology in Huntington's disease patients. Acta Psychiat. Scand. 90: 241-246, 1994. [PubMed: 7831992] [Full Text: https://doi.org/10.1111/j.1600-0447.1994.tb01587.x]

  337. Silber, E., Kromberg, J., Temlett, J. A., Krause, A., Saffer, D. Huntington's disease confirmed by genetic testing in five African families. Mov. Disord. 13: 726-730, 1998. [PubMed: 9686782] [Full Text: https://doi.org/10.1002/mds.870130420]

  338. Simpson, S. A., Johnston, A. W. The prevalence and patterns of care of Huntington's chorea in Grampian. Brit. J. Psychiat. 155: 799-804, 1989. [PubMed: 2533515] [Full Text: https://doi.org/10.1192/bjp.155.6.799]

  339. Singaraja, R., Hadano, S., Metzler, M., Givan, S., Wellington, C. L., Warby, S., Yanal, A., Gutekunst, C.-A., Leavitt, B. R., Yi, H., Fichter, K., Gan, L., McCutcheon, K., Chopra, V., Michel, J., Hersch, S. M., Ikeda, J., Hayden, M. R. HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum. Molec. Genet. 11: 2815-2828, 2002. [PubMed: 12393793] [Full Text: https://doi.org/10.1093/hmg/11.23.2815]

  340. Sipione, S., Rigamonti, D., Valenza, M., Zuccato, C., Conti, L., Pritchard, J., Kooperberg, C., Olson, J. M., Cattaneo, E. Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses. Hum. Molec. Genet. 11: 1953-1965, 2002. Note: Erratum: Hum. Molec. Genet. 24: 597 only, 2015. Erratum: Hum. Molec. Genet. 25: 210 only, 2016. [PubMed: 12165557] [Full Text: https://doi.org/10.1093/hmg/11.17.1953]

  341. Sisodia, S. S. Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 95: 1-4, 1998. [PubMed: 9778239] [Full Text: https://doi.org/10.1016/s0092-8674(00)81743-2]

  342. Sittler, A., Lurz, R., Lueder, G., Priller, J., Lehrach, H., Hayer-Hartl, M. K., Hartl, F. U., Wanker, E. E. Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease. Hum. Molec. Genet. 10: 1307-1315, 2001. Note: Erratum: Hum. Molec. Genet. 10: 1719 only, 2001. [PubMed: 11406612] [Full Text: https://doi.org/10.1093/hmg/10.12.1307]

  343. Skraastad, M. I., Van de Vosse, E., Belfroid, R., Hold, K., Vegter-van der Vlis, M., Sandkuijl, L. A., Bakker, E., van Ommen, G. J. B. Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population. Am. J. Hum. Genet. 51: 730-735, 1992. [PubMed: 1415218]

  344. Slow, E. J., Graham, R. K., Osmand, A. P., Devon, R. S., Lu, G., Deng, Y., Pearson, J., Vaid, K., Bissada, N., Wetzel, R., Leavitt, B. R., Hayden, M. R. Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc. Nat. Acad. Sci. 102: 11402-11407, 2005. [PubMed: 16076956] [Full Text: https://doi.org/10.1073/pnas.0503634102]

  345. Slow, E. J., van Raamsdonk, J., Rogers, D., Coleman, S. H., Graham, R. K., Deng, Y., Oh, R., Bissada, N., Hossain, S. M., Yang, Y.-Z., Li, X.-J., Simpson, E. M., Gutekunst, C.-A., Leavitt, B. R., Hayden, M. R. Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum. Molec. Genet. 12: 1555-1567, 2003. [PubMed: 12812983] [Full Text: https://doi.org/10.1093/hmg/ddg169]

  346. Snell, R. G., MacMillan, J. C., Cheadle, J. P., Fenton, I., Lazarou, L. P., Davies, P., MacDonald, M. E., Gusella, J. F., Harper, P. S., Shaw, D. J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet. 4: 393-397, 1993. [PubMed: 8401588] [Full Text: https://doi.org/10.1038/ng0893-393]

  347. Snell, R. G., Youngman, S., Lehrach, H., Sarfarazi, M., Harper, P. S., Shaw, D. J. A new probe (2R3) in the region of Huntington's disease. (Abstract) Cytogenet. Cell Genet. 51: 1083, 1989.

  348. Stebbins, C. E., Russo, A. A., Schneider, C., Rosen, N., Hartl, F. U., Pavletich, N. P. Crystal structure of an Hsp90-geldanamycin complex: targeting of a protein chaperone by an antitumor agent. Cell 89: 239-250, 1997. [PubMed: 9108479] [Full Text: https://doi.org/10.1016/s0092-8674(00)80203-2]

  349. Steffan, J. S., Bodai, L., Pallos, J., Poelman, M., McCampbell, A., Apostol, B. L., Kazantsev, A., Schmidt, E., Zhu, Y.-Z., Greenwald, M., Kurokawa, R., Housman, D. E., Jackson, G. R., Marsh, J. L., Thompson, L. M. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413: 739-743, 2001. [PubMed: 11607033] [Full Text: https://doi.org/10.1038/35099568]

  350. Steffan, J. S., Kazantsev, A., Spasic-Boskovic, O., Greenwald, M., Zhu, Y.-Z., Gohler, H., Wanker, E. E., Bates, G. P., Housman, D. E., Thompson, L. M. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc. Nat. Acad. Sci. 97: 6763-6768, 2000. [PubMed: 10823891] [Full Text: https://doi.org/10.1073/pnas.100110097]

  351. Stine, O. C., Smith, K. D. The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis. Am. J. Hum. Genet. 46: 452-458, 1990. [PubMed: 2137963]

  352. Strobel, S. A., Doucette-Stamm, L. A., Riba, L., Housman, D. E., Dervan, P. B. Site-specific cleavage of human chromosome 4 mediated by triple-helix formation. Science 254: 1639-1642, 1991. [PubMed: 1836279] [Full Text: https://doi.org/10.1126/science.1836279]

  353. Sudarsky, L., Myers, R. H., Walshe, T. M. Huntington's disease in monozygotic twins reared apart. J. Med. Genet. 20: 408-411, 1983. [PubMed: 6228662] [Full Text: https://doi.org/10.1136/jmg.20.6.408]

  354. Szebenyi, G., Morfini, G. A., Babcock, A., Gould, M., Selkoe, K., Stenoien, D. L., Young, M., Faber, P. W., MacDonald, M. E., McPhaul, M. J., Brady, S. T. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 40: 41-52, 2003. [PubMed: 14527432] [Full Text: https://doi.org/10.1016/s0896-6273(03)00569-5]

  355. Tabrizi, S. J., Leavitt, B. R., Landwehrmeyer, G. B., Wild, E. J., Saft, C., Barker, R. A., Blair, N. F., Craufurd, D., Priller, J., Rickards, H., Rosser, A., Kordasiewicz, H. B., and 10 others. Targeting huntingtin expression in patients with Huntington's disease. New Eng. J. Med. 380: 2307-2316, 2019. Note: Erratum: New Eng. J. Med. 381: 1398 only, 2019. [PubMed: 31059641] [Full Text: https://doi.org/10.1056/NEJMoa1900907]

  356. Tanaka, M., Machida, Y., Niu, S., Ikeda, T., Jana, N. R., Doi, H., Kurosawa, M., Nekooki, M., Nukina, N. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nature Med. 10: 148-154, 2004. [PubMed: 14730359] [Full Text: https://doi.org/10.1038/nm985]

  357. Tang, T.-S., Tu, H., Chan, E. Y. W., Maximov, A., Wang, Z., Wellington, C. L., Hayden, M. R., Bezprozvanny, I. Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1. Neuron 39: 227-239, 2003. [PubMed: 12873381] [Full Text: https://doi.org/10.1016/s0896-6273(03)00366-0]

  358. Thakur, A. K., Wetzel, R. Mutational analysis of the structural organization of polyglutamine aggregates. Proc. Nat. Acad. Sci. 99: 17014-17019, 2002. [PubMed: 12444250] [Full Text: https://doi.org/10.1073/pnas.252523899]

  359. Tolmie, J. L., Davidson, H. R., May, H. M., McIntosh, K., Paterson, J. S., Smith, B. The prenatal exclusion test for Huntington's disease: experience in the West of Scotland, 1986-1993. J. Med. Genet. 32: 97-101, 1995. [PubMed: 7760329] [Full Text: https://doi.org/10.1136/jmg.32.2.97]

  360. Tranebjaerg, L., Petersen, A., Hove, K., Rehder, H., Mikkelsen, M. Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome. Ann. Genet. 27: 224-229, 1984. [PubMed: 6335368]

  361. Trettel, F., Rigamonti, D., Hilditch-Maguire, P., Wheeler, V. C., Sharp, A. H., Persichetti, F., Cattaneo, E., MacDonald, M. E. Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. Hum. Molec. Genet. 9: 2799-2809, 2000. [PubMed: 11092756] [Full Text: https://doi.org/10.1093/hmg/9.19.2799]

  362. Trottier, Y., Biancalana, V., Mandel, J.-L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J. Med. Genet. 31: 377-382, 1994. [PubMed: 8064815] [Full Text: https://doi.org/10.1136/jmg.31.5.377]

  363. Trushina, E., Dyer, R. B., Badger, J. D., II, Ure, D., Eide, L., Tran, D. D., Vrieze, B. T., Legendre-Guillemin, V., McPherson, P. S., Mandavilli, B. S., Van Houten, B., Zeitlin, S., and 10 others. Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Molec. Cell. Biol. 24: 8195-8209, 2004. [PubMed: 15340079] [Full Text: https://doi.org/10.1128/MCB.24.18.8195-8209.2004]

  364. Trushina, E., Heldebrant, M. P., Perez-Terzic, C. M., Bortolon, R., Kovtun, I. V., Badger, J. D., II., Terzic, A., Estevez, A., Windebank, A. J., Dyer, R. B., Yao, J., McMurray, C. T. Microtubule destabilization and nuclear entry are sequential steps leading to toxicity in Huntington's disease. Proc. Nat. Acad. Sci. 100: 12171-12176, 2003. [PubMed: 14527999] [Full Text: https://doi.org/10.1073/pnas.2034961100]

  365. Tsuno, A., Miyoshi, K., Tsujii, R., Miyakawa, T., Mizuta, K. RRS1, a conserved essential gene, encodes a novel regulatory protein required for ribosome biogenesis in Saccharomyces cerevisiae. Molec. Cell. Biol. 20: 2066-2074, 2000. [PubMed: 10688653] [Full Text: https://doi.org/10.1128/MCB.20.6.2066-2074.2000]

  366. Tyler, A., Quarrell, O. W. J., Lazarou, L. P., Meredith, A. L., Harper, P. S. Exclusion testing in pregnancy for Huntington's disease. J. Med. Genet. 27: 488-495, 1990. [PubMed: 2145437] [Full Text: https://doi.org/10.1136/jmg.27.8.488]

  367. U.S.-Venezuela Collaborative Research Project, Wexler, N. S. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Nat. Acad. Sci. 101: 3498-3503, 2004. [PubMed: 14993615] [Full Text: https://doi.org/10.1073/pnas.0308679101]

  368. van Dellen, A., Blakemore, C., Deacon, R., York, D., Hannan, A. J. Delaying the onset of Huntington's in mice: this unremitting disease develops later in animals stimulated by their environment. (Letter) Nature 404: 721-722, 2000. [PubMed: 10783874] [Full Text: https://doi.org/10.1038/35008142]

  369. van der Weiden, R. M. F. George Huntington and George Sumner Huntington: a tale of two doctors. (Letter) Hist. Philos. Life Sci. 11: 297-304, 1989. [PubMed: 2534642]

  370. van Dijk, J. G., van der Velde, E. A., Roos, R. A. C., Bruyn, G. W. Juvenile Huntington disease. Hum. Genet. 73: 235-239, 1986. [PubMed: 2942452] [Full Text: https://doi.org/10.1007/BF00401235]

  371. Van Raamsdonk, J. M., Murphy, Z., Slow, E. J., Leavitt, B. R., Hayden, M. R. Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. Hum. Molec. Genet. 14: 3823-3835, 2005. [PubMed: 16278236] [Full Text: https://doi.org/10.1093/hmg/ddi407]

  372. Van Raamsdonk, J. M., Pearson, J., Rogers, D. A., Bissada, N., Vogl, A. W., Hayden, M. R., Leavitt, B. R. Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease. Hum. Molec. Genet. 14: 1379-1392, 2005. [PubMed: 15829505] [Full Text: https://doi.org/10.1093/hmg/ddi147]

  373. Vessie, P. R. Original article on the transmission of Huntington's chorea for 300 years--the Bures family group. J. Nerv. Ment. Dis. 76: 553-573, 1932.

  374. Volkers, W. S., Went, L. N., Vegter-van der Vlis, M., Harper, P. S., Caro, A. Genetic linkage studies in Huntington's chorea. Ann. Hum. Genet. 44: 75-79, 1980. [PubMed: 6459755] [Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb00947.x]

  375. von Horsten, S., Schmitt, I., Nguyen, H. P., Holzmann, C., Schmidt, T., Walther, T., Bader, M., Pabst, R., Kobbe, P., Krotova, J., Stiller, D., Kask, A., and 13 others. Transgenic rat model of Huntington's disease. Hum. Molec. Genet. 12: 617-624, 2003. [PubMed: 12620967] [Full Text: https://doi.org/10.1093/hmg/ddg075]

  376. Walker, D. A., Harper, P. S., Wells, C. E. C., Tyler, A., Davies, K., Newcombe, R. G. Huntington's chorea in South Wales: a genetic and epidemiological study. Clin. Genet. 19: 213-221, 1981. [PubMed: 6456090] [Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00701.x]

  377. Walker, F. O. Huntington's disease. Lancet 369: 218-228, 2007. [PubMed: 17240289] [Full Text: https://doi.org/10.1016/S0140-6736(07)60111-1]

  378. Wallace, D. C., Hall, A. C. Evidence of genetic heterogeneity in Huntington's chorea. J. Neurol. Neurosurg. Psychiat. 35: 789-800, 1972. [PubMed: 4265114] [Full Text: https://doi.org/10.1136/jnnp.35.6.789]

  379. Wang, H. S., Greenberg, C. R., Hewitt, J., Kalousek, D., Hayden, M. R. Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3. Am. J. Hum. Genet. 39: 392-396, 1986. [PubMed: 2945429]

  380. Wang, H. S., Greenberg, C. R., Kalousek, D., Gusella, J., Horsman, D., Hayden, M. R. Subregional assignment of the linked marker D4S10 (G8) for Huntington disease by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 40: 772, 1985.

  381. Warby, S. C., Montpetit, A., Hayden, A. R., Carroll, J. B., Butland, S. L., Visscher, H., Collins, J. A., Semaka, A., Hudson, T. J., Hayden, M. R. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am. J. Hum. Genet. 84: 351-366, 2009. [PubMed: 19249009] [Full Text: https://doi.org/10.1016/j.ajhg.2009.02.003]

  382. Warby, S. C., Visscher, H., Butland, S., Pearson, C. E., Hayden, M. R. Response to Falush: a role for cis-element polymorphisms in HD. (Letter) Am. J. Hum. Genet. 85: 942-945, 2009. [PubMed: 20004773] [Full Text: https://doi.org/10.1016/j.ajhg.2009.11.006]

  383. Warner, J., Barron, L., St Clair, D., Brock, D. Reliability of clinical diagnosis of Huntington's disease. (Letter) J. Neurol. Neurosurg. Psychiat. 57: 1277 only, 1994. [PubMed: 7931402] [Full Text: https://doi.org/10.1136/jnnp.57.10.1277]

  384. Wasmuth, J. J., Hewitt, J., Smith, B., Allard, D., Haines, J. L., Skarecky, D., Partlow, E., Hayden, M. R. A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature 332: 734-736, 1988. [PubMed: 2895895] [Full Text: https://doi.org/10.1038/332734a0]

  385. Went, L. N., Vegter-van der Vlis, M., Bruyn, G. W. Parental transmission in Huntington's disease. Lancet 323: 1100-1102, 1984. Note: Originally Volume I. [PubMed: 6144830] [Full Text: https://doi.org/10.1016/s0140-6736(84)92510-8]

  386. Wexler, N. S., Bonilla, E., Young, A. B., Shoulson, I., Gomez, F., Starosta, S., Travers, H., Villalobas, M., de Quiroz, I., Erbe, R., Penney, J. B., Uzzell, R. S., Burnham, F. A., Daugherty, L., Jones, B., Mapstone, C., Rivas, M., Messer, E., Wexler, A., Snodgrass, R., Rosenzweig, G., Esteves, J., Marsol, N., Bailey, S., Brinley, F. J., Goldstein, E., Greene, A. E., Kidd, J. R., Kidd, K. K., Gusella, J. F., Conneally, P. M., Moreno, H. Huntington's disease in Venezuela and gene linkage. (Abstract) Cytogenet. Cell Genet. 37: 605, 1984.

  387. Wexler, N. S., Young, A. B., Tanzi, R. E., Travers, H., Starosta-Rubinstein, S., Penney, J. B., Snodgrass, S. R., Shoulson, I., Gomez, F., Ramos Arroyo, M. A., Penchaszadeh, G. K., Moreno, H., Gibbons, K., Faryniarz, A., Hobbs, W., Anderson, M. A., Bonilla, E., Conneally, P. M., Gusella, J. F. Homozygotes for Huntington's disease. Nature 326: 194-197, 1987. [PubMed: 2881213] [Full Text: https://doi.org/10.1038/326194a0]

  388. Wexler, N. S., Young, A., Tanzi, R., Starosta, S., Gomez, F., Travers, H., Snodgrass, S. R., Moreno, H., Shoulson, I., Penney, J., Conneally, P. M., Gusella, J. Huntington's disease homozygotes identified. (Abstract) Am. J. Hum. Genet. 37: A82, 1985.

  389. Wexler, N. S. The Tiresias complex: Huntington's disease as a paradigm of testing for late-onset disorders. FASEB J. 6: 2820-2825, 1992. [PubMed: 1386047] [Full Text: https://doi.org/10.1096/fasebj.6.10.1386047]

  390. Wheeler, V. C., Gutekunst, C.-A., Vrbanac, V., Lebel, L.-A., Schilling, G., Hersch, S., Friedlander, R. M., Gusella, J. F., Vonsattel, J.-P., Borchelt, D. R., MacDonald, M. E. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum. Molec. Genet. 11: 633-640, 2002. [PubMed: 11912178] [Full Text: https://doi.org/10.1093/hmg/11.6.633]

  391. Wheeler, V. C., Lebel, L.-A., Vrbanac, V., Teed, A., te Riele, H., MacDonald, M. E. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Molec. Genet. 12: 273-281, 2003. [PubMed: 12554681] [Full Text: https://doi.org/10.1093/hmg/ddg056]

  392. Wheeler, V. C., White, J. K., Gutekunst, C.-A., Vrbanac, V., Weaver, M., Li, X. J., Li, S.-H., Yi, H., Vonsattel, J.-P., Gusella, J. F., Hersch, S., Auerbach, W., Joyner, A. L., MacDonald, M. E. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh-Q92 and Hdh-Q111 knock-in mice. Hum. Molec. Genet. 9: 503-513, 2000. [PubMed: 10699173] [Full Text: https://doi.org/10.1093/hmg/9.4.503]

  393. Wiggins, S., Whyte, P., Huggins, M., Adam, S., Theilmann, J., Bloch, M., Sheps, S. B., Schechter, M. T., Hayden, M. R. The psychological consequences of predictive testing for Huntington's disease. New Eng. J. Med. 327: 1401-1405, 1992. [PubMed: 1406858] [Full Text: https://doi.org/10.1056/NEJM199211123272001]

  394. Willingham, S., Outeiro, T. F., DeVit, M. J., Lindquist, S. L., Muchowski, P. J. Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein. Science 302: 1769-1772, 2003. [PubMed: 14657499] [Full Text: https://doi.org/10.1126/science.1090389]

  395. Woerner, A. C., Frottin, F., Hornburg, D., Feng, L. R., Meissner, F., Patra, M., Tatzelt, J., Mann, M., Winklhofer, K. F., Hartl, F. U., Hipp, M. S. Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA. Science 351: 173-176, 2016. [PubMed: 26634439] [Full Text: https://doi.org/10.1126/science.aad2033]

  396. Wolff, G., Deuschl, G., Wienker, T. F., Hummel, K., Bender, K., Lucking, C. H., Schumacher, M., Hammer, J., Oepen, G. New mutation to Huntington's disease. J. Med. Genet. 26: 18-27, 1989. [PubMed: 2563774] [Full Text: https://doi.org/10.1136/jmg.26.1.18]

  397. Wright, G. E. B., Collins, J. A., Kay, C., McDonald, C., Dolzhenko, E., Xia, Q., Becanovic, K., Drogemoller, B. I., Semaka, A., Nguyen, C. M., Trost, B., Richards, F., Bijlsma, E. K., Squitieri, F., Ross, C. J. D., Scherer, S. W., Eberle, M. A., Yuen, R. K. C., Hayden, M. R. Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease. Am. J. Hum. Genet. 104: 1116-1126, 2019. [PubMed: 31104771] [Full Text: https://doi.org/10.1016/j.ajhg.2019.04.007]

  398. Wright, H. H., Still, C. N., Abramson, R. K. Huntington's disease in black kindreds in South Carolina. Arch. Neurol. 38: 412-414, 1981. [PubMed: 6454404] [Full Text: https://doi.org/10.1001/archneur.1981.00510070046005]

  399. Wyttenbach, A., Sauvageot, O., Carmichael, J., Diaz-Latoud, C., Arrigo, A.-P., Rubinsztein, D. C. Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum. Molec. Genet. 11: 1137-1151, 2002. [PubMed: 11978772] [Full Text: https://doi.org/10.1093/hmg/11.9.1137]

  400. Yamamoto, A., Lucas, J. J., Hen, R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101: 57-66, 2000. [PubMed: 10778856] [Full Text: https://doi.org/10.1016/S0092-8674(00)80623-6]

  401. Yamanaka, T., Tosaki, A., Miyazaki, H., Kurosawa, M., Furukawa, Y., Yamada, M., Nukini, N. Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction. Hum. Molec. Genet. 19: 2099-2112, 2010. [PubMed: 20185558] [Full Text: https://doi.org/10.1093/hmg/ddq087]

  402. Yan, S., Tu, Z., Liu, Z., Fan, N., Yang, H., Yang, S., Yang, W., Zhao, Y., Ouyang, Z., Lai, C., Yang, H., Li, L., and 9 others. A huntingtin knockin pig model recapitulates features of selective neurodegeneration in Huntington's disease. Cell 173: 989-1002, 2018. [PubMed: 29606351] [Full Text: https://doi.org/10.1016/j.cell.2018.03.005]

  403. Yang, S.-H., Cheng, P.-H., Banta, H., Piotrowska-Nitsche, K., Yang, J.-J., Cheng, E. C. H., Snyder, B., Larkin, K., Liu, J., Orkin, J., Fang, Z.-H., Smith, Y., Bachevalier, J., Zola, S. M., Li, S.-H., Li, X.-J., Chan, A. W. S. Towards a transgenic model of Huntington's disease in a non-human primate. Nature 453: 921-924, 2008. [PubMed: 18488016] [Full Text: https://doi.org/10.1038/nature06975]

  404. Yang, W., Dunlap, J. R., Andrews, R. B., Wetzel, R. Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells. Hum. Molec. Genet. 11: 2905-2917, 2002. [PubMed: 12393802] [Full Text: https://doi.org/10.1093/hmg/11.23.2905]

  405. Yoon, G., Kramer, J., Zanko, A., Guzijan, M., Lin, S., Foster-Barber, A., Boxer, A. L. Speech and language delay are early manifestations of juvenile-onset Huntington disease. Neurology 67: 1265-1267, 2006. [PubMed: 17030763] [Full Text: https://doi.org/10.1212/01.wnl.0000238390.86304.4e]

  406. Youngman, S., Sarfarazi, M., Quarrell, O. W. J., Conneally, P. M., Gibbons, K., Harper, P. S., Shaw, D. J., Tanzi, R. E., Wallace, M. R., Gusella, J. F. Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum. Genet. 73: 333-339, 1986. [PubMed: 3017842] [Full Text: https://doi.org/10.1007/BF00279096]

  407. Yu, Z.-X., Li, S.-H., Nguyen, H.-P., Li, X.-J. Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice. Hum. Molec. Genet. 11: 905-914, 2002. [PubMed: 11971872] [Full Text: https://doi.org/10.1093/hmg/11.8.905]

  408. Zabel, B. U., Naylor, S. L., Sakaguchi, A. Y., Gusella, J. F. Regional localization of a DNA polymorphism (D4S10) linked to Huntington's disease at 4p16-p15. (Abstract) Cytogenet. Cell Genet. 40: 787, 1985.

  409. Zabel, B. U., Naylor, S. L., Sakaguchi, A. Y., Gusella, J. F. Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16-p15. Cytogenet. Cell Genet. 42: 187-190, 1986. [PubMed: 2944714] [Full Text: https://doi.org/10.1159/000132276]

  410. Zhou, H., Cao, F., Wang, Z., Yu, Z.-X., Nguyen, H.-P., Evans, J., Li, S.-H., Li, X.-J. Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity. J. Cell Biol. 163: 109-118, 2003. [PubMed: 14557250] [Full Text: https://doi.org/10.1083/jcb.200306038]

  411. Zlotogora, J. Dominance and homozygosity. Am. J. Med. Genet. 68: 412-416, 1997. [PubMed: 9021013] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<412::aid-ajmg8>3.0.co;2-n]

  412. Zuo, J., Robbins, C., Taillon-Miller, P., Cox, D. R., Myers, R. M. Cloning of the Huntington disease region in yeast artificial chromosomes. Hum. Molec. Genet. 1: 149-159, 1992. [PubMed: 1303170] [Full Text: https://doi.org/10.1093/hmg/1.3.149]

  413. Zwilling, D., Huang, S.-Y., Sathyasaikumar, K. V., Notarangelo, F. M., Guidetti, P., Wu, H.-Q., Lee, J., Truong, J., Andrews-Zwilling, Y., Hsieh, E. W., Louie, J. Y., Wu, T., and 13 others. Kynurenine 3-monooxygenase inhibition in blood ameliorates neurodegeneration. Cell 145: 863-874, 2011. [PubMed: 21640374] [Full Text: https://doi.org/10.1016/j.cell.2011.05.020]