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Mol Med. 1997 April; 3(4): 238–246.
PMCID: PMC2230063

The genetic defect causing Huntington's disease: repeated in other contexts?

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Selected References

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  • Martin JB, Gusella JF. Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13;315(20):1267–1276. [PubMed]
  • Harper PS. The epidemiology of Huntington's disease. Hum Genet. 1992 Jun;89(4):365–376. [PubMed]
  • Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP., Jr Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol. 1985 Nov;44(6):559–577. [PubMed]
  • Graveland GA, Williams RS, DiFiglia M. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science. 1985 Feb 15;227(4688):770–773. [PubMed]
  • de la Monte SM, Vonsattel JP, Richardson EP., Jr Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington's disease. J Neuropathol Exp Neurol. 1988 Sep;47(5):516–525. [PubMed]
  • Hedreen JC, Peyser CE, Folstein SE, Ross CA. Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci Lett. 1991 Dec 9;133(2):257–261. [PubMed]
  • Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. [PubMed]
  • Gusella JF, Tanzi RE, Anderson MA, Hobbs W, Gibbons K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM. DNA markers for nervous system diseases. Science. 1984 Sep 21;225(4668):1320–1326. [PubMed]
  • Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM, et al. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 1987 Aug 14;50(4):565–571. [PubMed]
  • Gusella JF, MacDonald ME. Hunting for Huntington's disease. Mol Genet Med. 1993;3:139–158. [PubMed]
  • Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, et al. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet. 1994 Jan;20(1):27–38. [PubMed]
  • Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis. 1994 Dec;1(3):159–166. [PubMed]
  • Bozza A, Malagù S, Calzolari E, Novelletto A, Pavoni M, del Senno L. Expansion of a (CAG)n repeat region in a sporadic case of HD. Acta Neurol Scand. 1995 Aug;92(2):132–134. [PubMed]
  • Davis MB, Bateman D, Quinn NP, Marsden CD, Harding AE. Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet. 1994 Sep 10;344(8924):714–717. [PubMed]
  • Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A. Diagnosis of "sporadic" Huntington's disease. J Neurol Sci. 1995 Mar;129(1):51–55. [PubMed]
  • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, et al. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993 Oct;5(2):174–179. [PubMed]
  • Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL, et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet. 1993 Oct;5(2):168–173. [PubMed]
  • Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nat Genet. 1993 Nov;5(3):215–215. [PubMed]
  • Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med. 1994 May 19;330(20):1401–1406. [PubMed]
  • Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993 Aug;4(4):398–403. [PubMed]
  • Andrew SE, Goldberg YP, Kremer B, Squitieri F, Theilmann J, Zeisler J, Telenius H, Adam S, Almquist E, Anvret M, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet. 1994 May;54(5):852–863. [PubMed]
  • Barron LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJ. A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J Med Genet. 1993 Dec;30(12):1003–1007. [PMC free article] [PubMed]
  • Claes S, Van Zand K, Legius E, Dom R, Malfroid M, Baro F, Godderis J, Cassiman JJ. Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol. 1995 Aug;52(8):749–753. [PubMed]
  • Craufurd D, Dodge A. Mutation size and age at onset in Huntington's disease. J Med Genet. 1993 Dec;30(12):1008–1011. [PMC free article] [PubMed]
  • De Rooij KE, De Koning Gans PA, Skraastad MI, Belfroid RD, Vegter-Van Der Vlis M, Roos RA, Bakker E, Van Ommen GJ, Den Dunnen JT, Losekoot M. Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J Med Genet. 1993 Dec;30(12):996–1002. [PMC free article] [PubMed]
  • Dodé C, Dürr A, Pêcheux C, Mouret JF, Belal S, Bachner L, Agid Y, Kaplan JC, Brice A, Feingold J. Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis. C R Acad Sci III. 1993 Nov;316(11):1374–1380. [PubMed]
  • Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. [PubMed]
  • Illarioshkin SN, Igarashi S, Onodera O, Markova ED, Nikolskaya NN, Tanaka H, Chabrashwili TZ, Insarova NG, Endo K, Ivanova-Smolenskaya IA, et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol. 1994 Oct;36(4):630–635. [PubMed]
  • Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov;31(11):872–874. [PMC free article] [PubMed]
  • Lucotte G, Aouizérate A, Loreille O, Gérard N, Turpin JC. Trinucleotide repeat elongation in the huntingtin gene in Huntington's disease patients from 85 French families. The French HD Research Group. Genet Couns. 1994;5(4):321–328. [PubMed]
  • 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. 1995 Sep;32(9):701–705. [PMC free article] [PubMed]
  • Meszaros K, Willinger U, Heiden AM, Fuchs K, Baumhackl U, Brücke T, Feucht M, Fathi N, Lenzinger E, Miller E, et al. Chorea Huntington: Die (CAG)n-Sequenz am Gen IT 15 in Osterreich. Wien Klin Wochenschr. 1994;106(21):671–672. [PubMed]
  • Nørremølle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sørensen SA. Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Hum Mol Genet. 1993 Sep;2(9):1475–1476. [PubMed]
  • Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF, et al. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan;3(1):93–98. [PubMed]
  • Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug;4(4):393–397. [PubMed]
  • Soong BW, Wang JT. A study on Huntington's disease associated trinucleotide repeat within the Chinese population. Proc Natl Sci Counc Repub China B. 1995 Jul;19(3):137–142. [PubMed]
  • Trottier Y, Biancalana V, Mandel JL. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J Med Genet. 1994 May;31(5):377–382. [PMC free article] [PubMed]
  • Whitefield JE, Williams L, Snow K, Dixon J, Winship I, Stapleton PM, Faull RM, Love DR. Molecular analysis of the Huntington's disease gene in New Zealand. N Z Med J. 1996 Feb 9;109(1015):27–30. [PubMed]
  • Xuereb JH, MacMillan JC, Snell R, Davies P, Harper PS. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):78–81. [PMC free article] [PubMed]
  • Zühlke C, Riess O, Schröder K, Siedlaczck I, Epplen JT, Engel W, Thies U. Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet. 1993 Sep;2(9):1467–1469. [PubMed]
  • Gusella JF, MacDonald ME. Huntington's disease. Semin Cell Biol. 1995 Feb;6(1):21–28. [PubMed]
  • Furtado S, Suchowersky O, Rewcastle B, Graham L, Klimek ML, Garber A. Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann Neurol. 1996 Jan;39(1):132–136. [PubMed]
  • Brandt J, Bylsma FW, Gross R, Stine OC, Ranen N, Ross CA. Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology. 1996 Feb;46(2):527–531. [PubMed]
  • Andrade MA, Bork P. HEAT repeats in the Huntington's disease protein. Nat Genet. 1995 Oct;11(2):115–116. [PubMed]
  • Baxendale S, Abdulla S, Elgar G, Buck D, Berks M, Micklem G, Durbin R, Bates G, Brenner S, Beck S. Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nat Genet. 1995 May;10(1):67–76. [PubMed]
  • Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar;20(2):87–97. [PubMed]
  • Lin B, Nasir J, MacDonald H, Hutchinson G, Graham RK, Rommens JM, Hayden MR. Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]. Hum Mol Genet. 1994 Jan;3(1):85–92. [PubMed]
  • Schmitt I, Bächner D, Megow D, Henklein P, Hameister H, Epplen JT, Riess O. Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development. Hum Mol Genet. 1995 Jul;4(7):1173–1182. [PubMed]
  • Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996;47:201–209. [PubMed]
  • Fischbeck KH. The expanded trinucleotide repeat in Kennedy's disease. Proc Assoc Am Physicians. 1995 Jul;107(2):228–230. [PubMed]
  • Brooks BP, Fischbeck KH. Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 1995 Oct;18(10):459–461. [PubMed]
  • Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521–524. [PubMed]
  • Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA. Clin Neurosci. 1995;3(1):23–27. [PubMed]
  • Ikeuchi T, Onodera O, Oyake M, Koide R, Tanaka H, Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin Cell Biol. 1995 Feb;6(1):37–44. [PubMed]
  • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Jan;6(1):9–13. [PubMed]
  • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994 Jan;6(1):14–18. [PubMed]
  • Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb;6(1):29–35. [PubMed]
  • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269–276. [PubMed]
  • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996 Nov;14(3):277–284. [PubMed]
  • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996 Nov;14(3):285–291. [PubMed]
  • Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996 Apr;39(4):490–499. [PubMed]
  • Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann HM, Agid Y, et al. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet. 1995 Oct;57(4):809–816. [PubMed]
  • Haberhausen G, Damian MS, Leweke F, Müller U. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J Neurol Sci. 1995 Sep;132(1):71–75. [PubMed]
  • Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221–228. [PubMed]
  • Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208–213. [PubMed]
  • Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul;38(1):68–72. [PubMed]
  • Schöls L, Vieira-Saecker AM, Schöls S, Przuntek H, Epplen JT, Riess O. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet. 1995 Jun;4(6):1001–1005. [PubMed]
  • Schöls L, Amoiridis G, Langkafel M, Büttner T, Przuntek H, Riess O, Vieira-Saecker AM, Epplen JT. Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):449–450. [PMC free article] [PubMed]
  • Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature. 1995 Nov 23;378(6555):403–406. [PubMed]
  • Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, et al. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct;6(10):965–971. [PubMed]
  • MacLean HE, Choi WT, Rekaris G, Warne GL, Zajac JD. Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab. 1995 Feb;80(2):508–516. [PubMed]
  • Kremer B, Squitieri F, Telenius H, Andrew SE, Theilmann J, Spence N, Goldberg YP, Hayden MR. Molecular analysis of late onset Huntington's disease. J Med Genet. 1993 Dec;30(12):991–995. [PMC free article] [PubMed]
  • Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA. Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet. 1993 Oct;2(10):1547–1549. [PubMed]
  • Rubinsztein DC, Barton DE, Davison BC, Ferguson-Smith MA. 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. 1993 Oct;2(10):1713–1715. [PubMed]
  • Fourquet N, Genet L, Davy-Chedaute F, Jezequel J, Blanc JJ. Hypersensibilité sino-carotidienne associée à un cancer oto-rhino-laryngologique traité. Etude chez 103 malades. Presse Med. 1991 Nov 2;20(35):1713–1716. [PubMed]
  • Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet. 1994 Aug;55(2):244–252. [PubMed]
  • Matilla T, Volpini V, Genís D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X. 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. 1993 Dec;2(12):2123–2128. [PubMed]
  • Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol. 1995 Feb;37(2):176–180. [PubMed]
  • Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA, Alexeev VP, Gajdusek DC. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol. 1996 Apr;39(4):500–506. [PubMed]
  • Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 1995 Jan;45(1):143–149. [PubMed]
  • Nørremølle A, Nielsen JE, Sørensen SA, Hasholt L. Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum Genet. 1995 Mar;95(3):313–318. [PubMed]
  • Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT. 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. 1995 Sep;57(3):603–608. [PubMed]
  • Maruyama H, Nakamura S, Matsuyama Z, Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet. 1995 May;4(5):807–812. [PubMed]
  • Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Loureiro JE, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995 Jul;57(1):54–61. [PubMed]
  • Lang AE, Rogaeva EA, Tsuda T, Hutterer J, St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol. 1994 Sep;36(3):443–447. [PubMed]
  • Sato K, Kashihara K, Okada S, Ikeuchi T, Tsuji S, Shomori T, Morimoto K, Hayabara T. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology. 1995 Oct;45(10):1934–1936. [PubMed]
  • Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, et al. 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. 1995 Jul;4(7):1137–1146. [PubMed]
  • Myers RH, Leavitt J, Farrer LA, Jagadeesh J, McFarlane H, Mastromauro CA, Mark RJ, Gusella JF. Homozygote for Huntington disease. Am J Hum Genet. 1989 Oct;45(4):615–618. [PubMed]

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