Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice

Burright, 1995, SCA1 transgenic mice, Cell, 82, 937, 10.1016/0092-8674(95)90273-2 de la Monte, 1988, Morphometric demonstration of atrophic changes in the cerebral cortex, white matter and neostriatum in Huntington's disease, J. Neuropath. Exp. Neurol., 47, 516, 10.1097/00005072-198809000-00003 DiFiglia, 1995, Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons, Neuron, 14, 1075, 10.1016/0896-6273(95)90346-1 Durr, 1996, Spinocerebellar ataxia 3 and Machado-Joseph disease, Ann. Neurol., 39, 490, 10.1002/ana.410390411 Harper, P.S. (1991). Huntington's Disease (London: W.B. Saunders). Hedreen, 1995, Early loss of early neostriatal neurons in Huntington's disease, J. Neuropath. Exp. Neurol., 54, 105, 10.1097/00005072-199501000-00013 Huntington's Disease Collaborative Research Group, 1993, A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes, Cell, 72, 971, 10.1016/0092-8674(93)90585-E Ikeda, 1996, Expanded polyglutamine in the Machado- Joseph disease protein induces cell death in vitro and in vivo, Nature Genet., 13, 196, 10.1038/ng0696-196 Jou, 1995, Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein, Hum. Mol. Genet., 4, 465, 10.1093/hmg/4.3.465 Kawaguchi, 1994, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1, Nature Genet., 8, 221, 10.1038/ng1194-221 Kennedy, 1968, Progressive proximal spinal and bulbar atrophy of late onset. A sex linked recessive trait, Neurology, 18, 671, 10.1212/WNL.18.7.671 Koide, 1994, Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA), Nature Genet., 6, 9, 10.1038/ng0194-9 La Spada, 1991, Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy, Nature, 352, 77, 10.1038/352077a0 Lauder, 1954, A survey of canine distemper, Veterinary Record, 66, 607 Li, 1995, A huntingtin-associated protein enriched in brain with implications for pathology, Nature, 378, 398, 10.1038/378398a0 Lyon, 1990 Monaco, 1985, Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA probe, Nature, 316, 842, 10.1038/316842a0 Myers, 1988, Clinical and neuropathological assessment of severity in Huntington's disease, Neurology, 38, 341, 10.1212/WNL.38.3.341 Myers, 1991, Decreased neuronal and increased oligodendroglial densities in Huntington's disease caudate nucleus, J. Neuropath. Exp. Neurol., 50, 729, 10.1097/00005072-199111000-00005 Orr, 1993, Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1, Nature Genet., 4, 221, 10.1038/ng0793-221 Sanberg, 1981, Body weight and dietary factors on Huntington's disease patients compared with matched controls, Med. J. Aust., 1, 407, 10.5694/j.1326-5377.1981.tb135681.x Servadio, 1995, Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebelar ataxia type 1 individuals, Nature Genet., 10, 94, 10.1038/ng0595-94 Sidman, 1971 Strong, 1993, Widespread expression of the human and rat Huntington's disease gene in brain and nonneuronal tissues, Nature Genet., 5, 259, 10.1038/ng1193-259 Takahashi, 1988, Hereditary dentatorubral-pallidoluysian atrophy, Neurology, 38, 1065, 10.1212/WNL.38.7.1065 Telenius, 1993, Molecular analysis of juvenile Huntington disease, Hum. Mol. Genet., 2, 1535, 10.1093/hmg/2.10.1535 Trottier, 1995, Cellular localisation of the Huntington's disease protein and discrimination of the normal and mutated forms, Nature Genet., 10, 104, 10.1038/ng0595-104 Trottier, 1995, Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias, Nature, 378, 403, 10.1038/378403a0 Vonsattel, 1985, Neuropathological classification of Huntington's disease, J. Neuropath. Exp. Neurol., 44, 559, 10.1097/00005072-198511000-00003 Wheeler, 1985, Vesico-urethral function in Huntington's chorea, Brit. J. Urol., 57, 63, 10.1111/j.1464-410X.1985.tb08987.x Yazawa, 1995, Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain, Nature Genet., 10, 99, 10.1038/ng0595-99 Zoghbi, H.Y. (1993). In Current Neurology, S.H. Appel, ed. (St. Louis, MO: Mosby–Year Book), pp. 87–110.