Vonsattel JP, Myers RH, Stevens TJ, et al. (1985) Neuropathological classification of Huntington’s disease. J. Neuropathol. Exp. Neurol.44: 559–577. ArticlePubMedCAS Google Scholar
Graveland GA, Williams RS, DiFiglia M. (1985) Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington’s disease. Science227: 770–773. ArticlePubMedCAS Google Scholar
de la Monte SM, Vonsattel JP, Richardson EP, Jr. (1988) Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington’s disease. J. Neuropathol. Exp. Neurol.47: 516–525. ArticlePubMed Google Scholar
Hedreen JC, Peyser CE, Folstein SE, et al. (1991) Neuronal loss in layers V and VI of cerebral cortex in Huntington’s disease. Neurosci. Lett.133: 257–261. ArticlePubMedCAS Google Scholar
Gusella JF, Wexler NS, Conneally PM, et al. (1983) A polymorphic DNA marker genetically linked to Huntington’s disease. Nature306: 234–238. ArticlePubMedCAS Google Scholar
Gusella JF, Tanzi RE, Anderson MA, et al. (1984) DNA markers for nervous system diseases. Science225: 1320–1326. ArticlePubMedCAS Google Scholar
Gilliam TC, Tanzi RE, Haines JL, et al. (1987) Localization of the Huntington’s disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell50: 565–571. ArticlePubMedCAS Google Scholar
Huntington’s Disease Collaborative Research Group. (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell72: 971–983. Article Google Scholar
Gusella JF, MacDonald ME. (1993) Hunting for Huntington’s disease. Mol. Genet. Med.3: 139–158. ArticlePubMedCAS Google Scholar
Ambrose CM, Duyao MP, Barnes G, et al. (1994) Structure and expression of the Huntington’s disease gene: Evidence against simple inactivation due to an expanded CAG repeat. Somat. Cell Mol. Genet.20: 27–38. ArticlePubMedCAS Google Scholar
Persichetti F, Srinidhi J, Kanaley L, et al. (1995) Huntington’s disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol. Dis.1: 159–166. Article Google Scholar
Bozza A, Malagu S, Calzolari E, et al. (1995) Expansion of a (CAG)n repeat region in a sporadic case of HD. Acta Neurol. Scand.92: 132–134. ArticlePubMedCAS Google Scholar
Davis MB, Bateman D, Quinn NP, et al. (1994) Mutation analysis in patients with possible but apparently sporadic Huntington’s disease. Lancet344: 714–717. ArticlePubMedCAS Google Scholar
Durr A, Dode C, Hahn V, et al. (1995) Diagnosis of “sporadic” Huntington’s disease. J. Neurol. Sci.129: 51–55. ArticlePubMedCAS Google Scholar
Goldberg YP, Kremer B, Andrew SE, et al. (1993) Molecular analysis of new mutations for Huntington’s disease: Intermediate alleles and sex of origin effects. Nat. Genet.5: 174–179. ArticlePubMedCAS Google Scholar
Myers RH, MacDonald ME, Koroshetz WJ, et al. (1993) De novo expansion of a (CAG)n repeat in sporadic Huntington’s disease. Nat. Genet.5: 168–173. ArticlePubMedCAS Google Scholar
Kremer B, Goldberg P, Andrew SE, et al. (1994) A worldwide study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats. N. Engl. J. Med.330: 1401–1406. ArticlePubMedCAS Google Scholar
Andrew SE, Goldberg YP, Kremer B, et al. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nat. Genet.4: 398–403. ArticlePubMedCAS Google Scholar
Andrew SE, Goldberg YP, Kremer B, et al. (1994) Huntington disease without CAG expansion: Phenocopies or errors in assignment? Am. J. Hum. Genet.54: 852–863. PubMedPubMed CentralCAS Google Scholar
Barron LH, Warner JP, Porteous M, et al. (1993) A study of the Huntington’s disease associated trinucleotide repeat in the Scottish population. J. Med. Genet.30: 1003–1007. ArticlePubMedPubMed CentralCAS Google Scholar
Claes S, Van Zand K, Legius E, et al. (1995) Correlations between triplet repeat expansion and clinical features in Huntington’s disease. Arch. Neurol.52: 749–753. ArticlePubMedCAS Google Scholar
De Rooij KE, De Koning Gans PA, Skraastad MI, et al. (1993) Dynamic mutation in Dutch Huntington’s disease patients: Increased paternal repeat instability extending to within the normal size range. J. Med. Genet.30: 996–1002. ArticlePubMedPubMed Central Google Scholar
Dode C, Durr A, Pecheux C, et al. (1993) Huntington’s disease in French families: CAG repeat expansion and linkage disequilibrium analysis. C. R. Acad. Sci. III.316: 1374–1380. PubMedCAS Google Scholar
Duyao M, Ambrose C, Myers R, et al. (1993) Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nat. Genet.4: 387–392. ArticlePubMedCAS Google Scholar
Illarioshkin SN, Igarashi S, Onodera O, et al. (1994) Trinucleotide repeat length and rate of progression of Huntington’s disease. Ann. Neurol.36: 630–635. ArticlePubMedCAS Google Scholar
Kieburtz K, MacDonald M, Shih C, et al. (1994) Trinucleotide repeat length and progression of illness in Huntington’s disease. J. Med. Genet.31: 872–874. ArticlePubMedPubMed CentralCAS Google Scholar
Lucotte G, Aouizerate A, Loreille O, et al. (1994) Trinucleotide repeat elongation in the huntingtin gene in Huntington’s disease patients from 85 French families. Genet Couns.5: 321–328. PubMedCAS Google Scholar
Masuda N, Goto J, Murayama N, et al. (1995) Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington’s disease. J. Med. Genet.32: 701–705. ArticlePubMedPubMed CentralCAS Google Scholar
Meszaros K, Willinger U, Heiden AM, et al. (1994) Huntington chorea: (CAG)n repeats on gene IT 15 in Austria (in German). Wien Klin. Wochenschr.106: 671–672. PubMedCAS Google Scholar
Norremolle A, Riess O, Epplen JT, et al. (1993) Trinucleotide repeat elongation in the huntingtin gene in Huntington disease patients from 71 Danish families. Hum. Mol. Genet.2: 1475–1476. ArticlePubMedCAS Google Scholar
Norremolle A, Sorensen SA, Fenger K, et al. (1995) Correlation between magnitude of 244 CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington’s disease. Clin. Genet.47: 113–117. ArticlePubMedCAS Google Scholar
Novelletto A, Persichetti F, Sabbadini G, et al. (1994) Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum. Mol. Genet.3: 93–98. ArticlePubMedCAS Google Scholar
Snell RG, MacMillan JC, Cheadle JP, et al. (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington’s disease [see comments]. Nat. Genet.4: 393–397. ArticlePubMedCAS Google Scholar
Soong BW, Wang JT. (1995) A study on Huntington’s disease associated trinucleotide repeat within the Chinese population. Proc. Natl. Sci. Counc. Repub. China B19: 137–142. PubMedCAS Google Scholar
Trottier Y, Biancalana V, Mandel JL. (1994) Instability of CAG repeats in Huntington’s disease: Relation to parental transmission and age of onset. J. Med. Genet.31: 377–382. ArticlePubMedPubMed CentralCAS Google Scholar
Whitefield JE, Williams L, Snow K, et al. (1996) Molecular analysis of the Huntington’s disease gene in New Zealand. N. Z. Med. J.109: 27–30. PubMedCAS Google Scholar
Xuereb JH, MacMillan JC, Snell R, et al. (1996) Neuropathological diagnosis and CAG repeat expansion in Huntington’s disease. J. Neurol. Neurosurg. Psychiatry60: 78–81. ArticlePubMedPubMed CentralCAS Google Scholar
Zuhlke C, Riess O, Schroder K, et al. (1993) Expansion of the (CAG)n repeat causing Huntington’s disease in 352 patients of German origin. Hum. Mol. Genet.2: 1467–1469. ArticlePubMedCAS Google Scholar
Furtado S, Suchowersky O, Rewcastle B, et al. (1996) Relationship between trinucleotide repeats and neuropathological changes in Huntington’s disease. Ann. Neurol.39: 132–136. ArticlePubMedCAS Google Scholar
Brandt J, Bylsma FW, Gross R, et al. (1996) Trinucleotide repeat length and clinical progression in Huntington’s disease. Neurology46: 527–531. ArticlePubMedCAS Google Scholar
Andrade MA, Bork P. (1995) HEAT repeats in the Huntington’s disease protein [letter]. Nat. Genet.11: 115–116. ArticlePubMedCAS Google Scholar
Baxendale S, Abdulla S, Elgar G, et al. (1995) Comparative sequence analysis of the human and pufferfish Huntington’s disease genes. Nat. Genet.10: 67–76. ArticlePubMedCAS Google Scholar
Barnes GT, Duyao MP, Ambrose CM, et al. (1994) Mouse Huntington’s disease gene homolog (Hdh). Somat. Cell Mol. Genet.20: 87–97. ArticlePubMedCAS Google Scholar
Lin B, Nasir J, MacDonald H, et al. (1994) Sequence of the murine Huntington disease gene: Evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat. Hum. Mol. Genet.3: 85–92 [Erratum in Hum. Mol Genet. (1994) 3: 530]. ArticlePubMedCAS Google Scholar
Schmitt I, Bachner D, Megow D, et al. (1995) Expression of the Huntington disease gene in rodents: Cloning the rat homologue and evidence for down-regulation in nonneuronal tissues during development. Hum. Mol. Genet.4: 1173–1182. ArticlePubMedCAS Google Scholar
Gusella JF, MacDonald ME. (1996) Trinucleotide instability: A repeating theme in human inherited disorders. Annu. Rev. Med.47: 201–209. ArticlePubMedCAS Google Scholar
Fischbeck KH. (1995) The expanded trinucleotide repeat in Kennedy’s disease. Proc. Assoc. Am. Physicians107: 228–230. PubMedCAS Google Scholar
Brooks BP, Fischbeck KH. (1995) Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci.18: 459–461. ArticlePubMedCAS Google Scholar
Burke JR, Wingfield MS, Lewis KE, et al. (1994) The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat. Genet.7: 521–524. ArticlePubMedCAS Google Scholar
Ikeuchi T, Koide R, Onodera O, et al. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA. Clin. Neurosci.3: 23–27. PubMedCAS Google Scholar
Ikeuchi T, Onodera O, Oyake M, et al. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol.6: 37–44. ArticlePubMedCAS Google Scholar
Koide R, Ikeuchi T, Onodera O, et al. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet.6: 9–13. ArticlePubMedCAS Google Scholar
Nagafuchi S, Yanagisawa H, Sato K, et al. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet.6: 14–18. ArticlePubMedCAS Google Scholar
Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet.14: 269–276. ArticlePubMedCAS Google Scholar
Sanpei K, Takano H, Igarashi S, et al. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat. Genet.14: 277–284. ArticlePubMedCAS Google Scholar
Imbert G, Saudou F, Yvert G, et al. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet.14: 285–291. ArticlePubMedCAS Google Scholar
Durr A, Stevanin G, Cancel G, et al. (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features. Ann. Neurol.39: 490–499. ArticlePubMedCAS Google Scholar
Cancel G, Abbas N, Stevanin G, et al. (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am. J. Hum. Genet.57: 809–816. PubMedPubMed CentralCAS Google Scholar
Haberhausen G, Damian MS, Leweke F, et al. (1995) Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J. Neurol. Sci.132: 71–75. ArticlePubMedCAS Google Scholar
Kawaguchi Y, Okamoto T, Taniwaki M, et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet.8: 221–228. ArticlePubMedCAS Google Scholar
Higgins JJ, Nee LE, Vasconcelos O, et al. (1996) Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology46: 208–213. ArticlePubMedCAS Google Scholar
Matilla T, McCall A, Subramony SH, et al. (1995) Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann. Neurol.38: 68–72. ArticlePubMedCAS Google Scholar
Schols L, Vieira-Saecker AM, Schols S, et al. (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum. Mol. Genet.4: 1001–1005. ArticlePubMedCAS Google Scholar
Schols L, Amoiridis G, Langkafel M, et al. (1995) Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J. Neurol. Neurosurg. Psychiatry59: 449–450. ArticlePubMedPubMed CentralCAS Google Scholar
Zhuchenko O, Bailey J, Bonnen P, et al. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel. Nat. Genet.15: 62–68. ArticlePubMedCAS Google Scholar
Trottier Y, Lutz Y, Stevanin G, et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington’s disease and four dominant cerebellar ataxias. Nature378: 403–406. ArticlePubMedCAS Google Scholar
Lindblad K, Savontaus ML, Stevanin G, et al. (1996) An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res.6: 965–971. ArticlePubMedCAS Google Scholar
MacLean HE, Choi WT, Rekaris G, et al. (1995) Abnormal androgen receptor binding affinity in subjects with Kennedy’s disease (spinal and bulbar muscular atrophy). J. Clin. Endocrinol. Metab.80: 508–516. PubMedCAS Google Scholar
Stine OC, Pleasant N, Franz ML, et al. (1993) Correlation between the onset age of Huntington’s disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet.2: 1547–1549. ArticlePubMedCAS Google Scholar
Rubinsztein DC, Barton DE, Davison BC, et al. (1993) Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington’s disease and CAG repeat number. Hum. Mol. Genet.2: 1713–1715. ArticlePubMedCAS Google Scholar
Ranum LP, Chung MY, Banfi S, et al. (1994) Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset. Am. J. Hum. Genet.55: 244–252. PubMedPubMed CentralCAS Google Scholar
Matilla T, Volpini V, Genis D, et al. (1993) Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Mol. Genet.2: 2123–2128. ArticlePubMedCAS Google Scholar
Dubourg O, Durr A, Cancel G, et al. (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Ann. Neurol.37: 176–180. ArticlePubMedCAS Google Scholar
Goldfarb LG, Vasconcelos O, Platonov FA, et al. (1996) Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann. Neurol.39: 500–506. ArticlePubMedCAS Google Scholar
Warner TT, Williams LD, Walker RW, et al. (1995) A clinical and molecular genetic study of dentatorubropallidoluysian atrophy 246 in four European families. Ann. Neurol.37: 452–459. ArticlePubMedCAS Google Scholar
Komure O, Sano A, Nishino N, et al. (1995) DNA analysis in hereditary dentatorubralpallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology45: 143–149. ArticlePubMedCAS Google Scholar
Norremolle A, Nielsen JE, Sorensen SA, et al. (1995) Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubropallido-luysian atrophy. Hum. Genet.95: 313–318. ArticlePubMedCAS Google Scholar
Ranum LP, Lundgren JK, Schut LJ, et al. (1995) Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet.57: 603–608. PubMedPubMed CentralCAS Google Scholar
Maruyama H, Nakamura S, Matsuyama Z, et al. (1995) Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet.4: 807–812. ArticlePubMedCAS Google Scholar
Maciel P, Gaspar C, DeStefano AL, et al. (1995) Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet.57: 54–61. PubMedPubMed CentralCAS Google Scholar
Lang AE, Rogaeva EA, Tsuda T, et al. (1994) Homozygous inheritance of the Machado-Joseph disease gene. Ann. Neurol.36: 443–447. ArticlePubMedCAS Google Scholar
Sato K, Kashihara K, Okada S, et al. (1995) Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology45: 1934–1936. ArticlePubMedCAS Google Scholar
Takiyama Y, Igarashi S, Rogaeva EA, et al. (1995) Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet.4: 1137–1146. ArticlePubMedCAS Google Scholar
Lerer I, Merims D, Abeliovich D, et al. (1996) Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur. J. Hum. Genet.4: 3–7. ArticlePubMedCAS Google Scholar