Skip to main content
Molecular Medicine logoLink to Molecular Medicine
. 1997 Apr;3(4):238–246.

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

J F Gusella 1, F Persichetti 1, M E MacDonald 1
PMCID: PMC2230063  PMID: 9131586

Full text

PDF
238

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ambrose C. M., Duyao M. P., Barnes G., Bates G. P., Lin C. S., Srinidhi J., Baxendale S., Hummerich H., Lehrach H., Altherr M. 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. doi: 10.1007/BF02257483. [DOI] [PubMed] [Google Scholar]
  2. Andrade M. A., Bork P. HEAT repeats in the Huntington's disease protein. Nat Genet. 1995 Oct;11(2):115–116. doi: 10.1038/ng1095-115. [DOI] [PubMed] [Google Scholar]
  3. Andrew S. E., Goldberg Y. P., Kremer B., Squitieri F., Theilmann J., Zeisler J., Telenius H., Adam S., Almquist E., Anvret M. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet. 1994 May;54(5):852–863. [PMC free article] [PubMed] [Google Scholar]
  4. Andrew S. E., Goldberg Y. P., Kremer B., Telenius H., Theilmann J., Adam S., Starr E., Squitieri F., Lin B., Kalchman M. A. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993 Aug;4(4):398–403. doi: 10.1038/ng0893-398. [DOI] [PubMed] [Google Scholar]
  5. Barnes G. T., Duyao M. P., Ambrose C. M., McNeil S., Persichetti F., Srinidhi J., Gusella J. F., MacDonald M. E. Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar;20(2):87–97. doi: 10.1007/BF02290678. [DOI] [PubMed] [Google Scholar]
  6. Barron L. H., Warner J. P., Porteous M., Holloway S., Simpson S., Davidson R., Brock D. J. A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J Med Genet. 1993 Dec;30(12):1003–1007. doi: 10.1136/jmg.30.12.1003. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. 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. doi: 10.1038/ng0595-67. [DOI] [PubMed] [Google Scholar]
  8. 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. doi: 10.1111/j.1600-0404.1995.tb01026.x. [DOI] [PubMed] [Google Scholar]
  9. Brandt J., Bylsma F. W., Gross R., Stine O. C., Ranen N., Ross C. A. Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology. 1996 Feb;46(2):527–531. doi: 10.1212/wnl.46.2.527. [DOI] [PubMed] [Google Scholar]
  10. Brooks B. P., Fischbeck K. H. Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 1995 Oct;18(10):459–461. doi: 10.1016/0166-2236(95)94497-s. [DOI] [PubMed] [Google Scholar]
  11. Burke J. R., Wingfield M. S., Lewis K. E., Roses A. D., Lee J. E., Hulette C., Pericak-Vance M. A., Vance J. M. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521–524. doi: 10.1038/ng0894-521. [DOI] [PubMed] [Google Scholar]
  12. Cancel G., Abbas N., Stevanin G., Dürr A., Chneiweiss H., Néri C., Duyckaerts C., Penet C., Cann H. M., Agid Y. 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. [PMC free article] [PubMed] [Google Scholar]
  13. Claes S., Van Zand K., Legius E., Dom R., Malfroid M., Baro F., Godderis J., Cassiman J. J. Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol. 1995 Aug;52(8):749–753. doi: 10.1001/archneur.1995.00540320021009. [DOI] [PubMed] [Google Scholar]
  14. Craufurd D., Dodge A. Mutation size and age at onset in Huntington's disease. J Med Genet. 1993 Dec;30(12):1008–1011. doi: 10.1136/jmg.30.12.1008. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Davis M. B., Bateman D., Quinn N. P., Marsden C. D., Harding A. E. Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet. 1994 Sep 10;344(8924):714–717. doi: 10.1016/s0140-6736(94)92208-x. [DOI] [PubMed] [Google Scholar]
  16. De Rooij K. E., De Koning Gans P. A., Skraastad M. I., Belfroid R. D., Vegter-Van Der Vlis M., Roos R. A., Bakker E., Van Ommen G. J., Den Dunnen J. T., 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. doi: 10.1136/jmg.30.12.996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Dodé C., Dürr A., Pêcheux C., Mouret J. F., Belal S., Bachner L., Agid Y., Kaplan J. C., 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] [Google Scholar]
  18. 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. doi: 10.1002/ana.410370207. [DOI] [PubMed] [Google Scholar]
  19. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
  20. Dürr A., Dodé C., Hahn V., Pêcheux C., Pillon B., Feingold J., Kaplan J. C., Agid Y., Brice A. Diagnosis of "sporadic" Huntington's disease. J Neurol Sci. 1995 Mar;129(1):51–55. doi: 10.1016/0022-510x(94)00250-r. [DOI] [PubMed] [Google Scholar]
  21. Dürr A., Stevanin G., Cancel G., Duyckaerts C., Abbas N., Didierjean O., Chneiweiss H., Benomar A., Lyon-Caen O., Julien J. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996 Apr;39(4):490–499. doi: 10.1002/ana.410390411. [DOI] [PubMed] [Google Scholar]
  22. Fischbeck K. H. The expanded trinucleotide repeat in Kennedy's disease. Proc Assoc Am Physicians. 1995 Jul;107(2):228–230. [PubMed] [Google Scholar]
  23. Fourquet N., Genet L., Davy-Chedaute F., Jezequel J., Blanc J. J. 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] [Google Scholar]
  24. Furtado S., Suchowersky O., Rewcastle B., Graham L., Klimek M. L., Garber A. Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann Neurol. 1996 Jan;39(1):132–136. doi: 10.1002/ana.410390120. [DOI] [PubMed] [Google Scholar]
  25. 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. 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. doi: 10.1016/0092-8674(87)90029-8. [DOI] [PubMed] [Google Scholar]
  26. Goldberg Y. P., Kremer B., Andrew S. E., Theilmann J., Graham R. K., Squitieri F., Telenius H., Adam S., Sajoo A., Starr E. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993 Oct;5(2):174–179. doi: 10.1038/ng1093-174. [DOI] [PubMed] [Google Scholar]
  27. Goldfarb L. G., Vasconcelos O., Platonov F. A., Lunkes A., Kipnis V., Kononova S., Chabrashvili T., Vladimirtsev V. A., Alexeev V. P., Gajdusek D. C. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol. 1996 Apr;39(4):500–506. doi: 10.1002/ana.410390412. [DOI] [PubMed] [Google Scholar]
  28. Graveland G. A., Williams R. S., DiFiglia M. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science. 1985 Feb 15;227(4688):770–773. doi: 10.1126/science.3155875. [DOI] [PubMed] [Google Scholar]
  29. Gusella J. F., MacDonald M. E. Hunting for Huntington's disease. Mol Genet Med. 1993;3:139–158. doi: 10.1016/b978-0-12-462003-2.50009-2. [DOI] [PubMed] [Google Scholar]
  30. Gusella J. F., MacDonald M. E. Huntington's disease. Semin Cell Biol. 1995 Feb;6(1):21–28. doi: 10.1016/1043-4682(95)90011-x. [DOI] [PubMed] [Google Scholar]
  31. Gusella J. F., MacDonald M. E. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996;47:201–209. doi: 10.1146/annurev.med.47.1.201. [DOI] [PubMed] [Google Scholar]
  32. 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. 1984 Sep 21;225(4668):1320–1326. doi: 10.1126/science.6089346. [DOI] [PubMed] [Google Scholar]
  33. 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. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
  34. Haberhausen G., Damian M. S., 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. doi: 10.1016/0022-510x(95)90927-i. [DOI] [PubMed] [Google Scholar]
  35. Harper P. S. The epidemiology of Huntington's disease. Hum Genet. 1992 Jun;89(4):365–376. doi: 10.1007/BF00194305. [DOI] [PubMed] [Google Scholar]
  36. Hedreen J. C., Peyser C. E., Folstein S. E., Ross C. A. Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci Lett. 1991 Dec 9;133(2):257–261. doi: 10.1016/0304-3940(91)90583-f. [DOI] [PubMed] [Google Scholar]
  37. Higgins J. J., Nee L. E., Vasconcelos O., Ide S. E., Lavedan C., Goldfarb L. G., Polymeropoulos M. H. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208–213. doi: 10.1212/wnl.46.1.208. [DOI] [PubMed] [Google Scholar]
  38. 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] [Google Scholar]
  39. 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. doi: 10.1016/1043-4682(95)90013-6. [DOI] [PubMed] [Google Scholar]
  40. 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. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol. 1994 Oct;36(4):630–635. doi: 10.1002/ana.410360412. [DOI] [PubMed] [Google Scholar]
  41. Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J. M., Weber C., Mandel J. L., Cancel G., Abbas N. 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. doi: 10.1038/ng1196-285. [DOI] [PubMed] [Google Scholar]
  42. Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221–228. doi: 10.1038/ng1194-221. [DOI] [PubMed] [Google Scholar]
  43. Kieburtz K., MacDonald M., Shih C., Feigin A., Steinberg K., Bordwell K., Zimmerman C., Srinidhi J., Sotack J., Gusella J. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov;31(11):872–874. doi: 10.1136/jmg.31.11.872. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Koide R., Ikeuchi T., Onodera O., Tanaka H., Igarashi S., Endo K., Takahashi H., Kondo R., Ishikawa A., Hayashi T. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Jan;6(1):9–13. doi: 10.1038/ng0194-9. [DOI] [PubMed] [Google Scholar]
  45. Komure O., Sano A., Nishino N., Yamauchi N., Ueno S., Kondoh K., Sano N., Takahashi M., Murayama N., Kondo I. 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. doi: 10.1212/wnl.45.1.143. [DOI] [PubMed] [Google Scholar]
  46. Kremer B., Goldberg P., Andrew S. E., Theilmann J., Telenius H., Zeisler J., Squitieri F., Lin B., Bassett A., Almqvist E. 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. doi: 10.1056/NEJM199405193302001. [DOI] [PubMed] [Google Scholar]
  47. Kremer B., Squitieri F., Telenius H., Andrew S. E., Theilmann J., Spence N., Goldberg Y. P., Hayden M. R. Molecular analysis of late onset Huntington's disease. J Med Genet. 1993 Dec;30(12):991–995. doi: 10.1136/jmg.30.12.991. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Lang A. E., Rogaeva E. A., Tsuda T., Hutterer J., St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol. 1994 Sep;36(3):443–447. doi: 10.1002/ana.410360318. [DOI] [PubMed] [Google Scholar]
  49. Lin B., Nasir J., MacDonald H., Hutchinson G., Graham R. K., Rommens J. M., Hayden M. R. 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. doi: 10.1093/hmg/3.1.85. [DOI] [PubMed] [Google Scholar]
  50. Lindblad K., Savontaus M. L., Stevanin G., Holmberg M., Digre K., Zander C., Ehrsson H., David G., Benomar A., Nikoskelainen E. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct;6(10):965–971. doi: 10.1101/gr.6.10.965. [DOI] [PubMed] [Google Scholar]
  51. Lucotte G., Aouizérate A., Loreille O., Gérard N., Turpin J. C. 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] [Google Scholar]
  52. MacLean H. E., Choi W. T., Rekaris G., Warne G. L., Zajac J. D. 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. doi: 10.1210/jcem.80.2.7852512. [DOI] [PubMed] [Google Scholar]
  53. Maciel P., Gaspar C., DeStefano A. L., Silveira I., Coutinho P., Radvany J., Dawson D. M., Sudarsky L., Guimarães J., Loureiro J. E. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995 Jul;57(1):54–61. [PMC free article] [PubMed] [Google Scholar]
  54. Martin J. B., Gusella J. F. Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13;315(20):1267–1276. doi: 10.1056/NEJM198611133152006. [DOI] [PubMed] [Google Scholar]
  55. Maruyama H., Nakamura S., Matsuyama Z., Sakai T., Doyu M., Sobue G., Seto M., Tsujihata M., Oh-i T., Nishio T. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet. 1995 May;4(5):807–812. doi: 10.1093/hmg/4.5.807. [DOI] [PubMed] [Google Scholar]
  56. 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. doi: 10.1136/jmg.32.9.701. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Matilla T., McCall A., Subramony S. H., Zoghbi H. Y. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul;38(1):68–72. doi: 10.1002/ana.410380113. [DOI] [PubMed] [Google Scholar]
  58. 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. doi: 10.1093/hmg/2.12.2123. [DOI] [PubMed] [Google Scholar]
  59. Meszaros K., Willinger U., Heiden A. M., Fuchs K., Baumhackl U., Brücke T., Feucht M., Fathi N., Lenzinger E., Miller E. Chorea Huntington: Die (CAG)n-Sequenz am Gen IT 15 in Osterreich. Wien Klin Wochenschr. 1994;106(21):671–672. [PubMed] [Google Scholar]
  60. 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. 1989 Oct;45(4):615–618. [PMC free article] [PubMed] [Google Scholar]
  61. Myers R. H., MacDonald M. E., Gusella J. F. Discrepancy resolved. Nat Genet. 1993 Nov;5(3):215–215. doi: 10.1038/ng1193-215b. [DOI] [PubMed] [Google Scholar]
  62. Myers R. H., MacDonald M. E., Koroshetz W. J., Duyao M. P., Ambrose C. M., Taylor S. A., Barnes G., Srinidhi J., Lin C. S., Whaley W. L. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet. 1993 Oct;5(2):168–173. doi: 10.1038/ng1093-168. [DOI] [PubMed] [Google Scholar]
  63. Nagafuchi S., Yanagisawa H., Sato K., Shirayama T., Ohsaki E., Bundo M., Takeda T., Tadokoro K., Kondo I., Murayama N. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994 Jan;6(1):14–18. doi: 10.1038/ng0194-14. [DOI] [PubMed] [Google Scholar]
  64. Novelletto A., Persichetti F., Sabbadini G., Mandich P., Bellone E., Ajmar F., Pergola M., Del Senno L., MacDonald M. E., Gusella J. F. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan;3(1):93–98. doi: 10.1093/hmg/3.1.93. [DOI] [PubMed] [Google Scholar]
  65. Nørremølle A., Nielsen J. E., Sørensen S. A., 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. doi: 10.1007/BF00225200. [DOI] [PubMed] [Google Scholar]
  66. Nørremølle A., Riess O., Epplen J. T., Fenger K., Hasholt L., Sørensen S. A. Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Hum Mol Genet. 1993 Sep;2(9):1475–1476. doi: 10.1093/hmg/2.9.1475. [DOI] [PubMed] [Google Scholar]
  67. Persichetti F., Srinidhi J., Kanaley L., Ge P., Myers R. H., D'Arrigo K., Barnes G. T., MacDonald M. E., Vonsattel J. P., Gusella J. F. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis. 1994 Dec;1(3):159–166. doi: 10.1006/nbdi.1994.0019. [DOI] [PubMed] [Google Scholar]
  68. Pulst S. M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X. N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269–276. doi: 10.1038/ng1196-269. [DOI] [PubMed] [Google Scholar]
  69. Ranum L. P., Chung M. Y., Banfi S., Bryer A., Schut L. J., Ramesar R., Duvick L. A., McCall A., Subramony S. H., Goldfarb L. 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. [PMC free article] [PubMed] [Google Scholar]
  70. Ranum L. P., Lundgren J. K., Schut L. J., Ahrens M. J., Perlman S., Aita J., Bird T. D., Gomez C., Orr H. T. 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. [PMC free article] [PubMed] [Google Scholar]
  71. Rubinsztein D. C., Barton D. E., Davison B. C., Ferguson-Smith M. A. 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. doi: 10.1093/hmg/2.10.1713. [DOI] [PubMed] [Google Scholar]
  72. Sanpei K., Takano H., Igarashi S., Sato T., Oyake M., Sasaki H., Wakisaka A., Tashiro K., Ishida Y., Ikeuchi T. 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. doi: 10.1038/ng1196-277. [DOI] [PubMed] [Google Scholar]
  73. 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. doi: 10.1212/wnl.45.10.1934. [DOI] [PubMed] [Google Scholar]
  74. Schmitt I., Bächner D., Megow D., Henklein P., Hameister H., Epplen J. T., 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. doi: 10.1093/hmg/4.7.1173. [DOI] [PubMed] [Google Scholar]
  75. Schöls L., Amoiridis G., Langkafel M., Büttner T., Przuntek H., Riess O., Vieira-Saecker A. M., Epplen J. T. Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):449–450. doi: 10.1136/jnnp.59.4.449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  76. Schöls L., Vieira-Saecker A. M., Schöls S., Przuntek H., Epplen J. T., 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. doi: 10.1093/hmg/4.6.1001. [DOI] [PubMed] [Google Scholar]
  77. 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. Nat Genet. 1993 Aug;4(4):393–397. doi: 10.1038/ng0893-393. [DOI] [PubMed] [Google Scholar]
  78. Soong B. W., Wang J. T. 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] [Google Scholar]
  79. Stine O. C., Pleasant N., Franz M. L., Abbott M. H., Folstein S. E., Ross C. A. 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. doi: 10.1093/hmg/2.10.1547. [DOI] [PubMed] [Google Scholar]
  80. Takiyama Y., Igarashi S., Rogaeva E. A., Endo K., Rogaev E. I., Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M. 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. doi: 10.1093/hmg/4.7.1137. [DOI] [PubMed] [Google Scholar]
  81. 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. 1994 May;31(5):377–382. doi: 10.1136/jmg.31.5.377. [DOI] [PMC free article] [PubMed] [Google Scholar]
  82. Trottier Y., Lutz Y., Stevanin G., Imbert G., Devys D., Cancel G., Saudou F., Weber C., David G., Tora L. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature. 1995 Nov 23;378(6555):403–406. doi: 10.1038/378403a0. [DOI] [PubMed] [Google Scholar]
  83. Vonsattel J. P., Myers R. H., Stevens T. J., Ferrante R. J., Bird E. D., Richardson E. P., Jr Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol. 1985 Nov;44(6):559–577. doi: 10.1097/00005072-198511000-00003. [DOI] [PubMed] [Google Scholar]
  84. Whitefield J. E., Williams L., Snow K., Dixon J., Winship I., Stapleton P. M., Faull R. M., Love D. R. Molecular analysis of the Huntington's disease gene in New Zealand. N Z Med J. 1996 Feb 9;109(1015):27–30. [PubMed] [Google Scholar]
  85. Xuereb J. H., MacMillan J. C., Snell R., Davies P., Harper P. S. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):78–81. doi: 10.1136/jnnp.60.1.78. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Zoghbi H. Y., Orr H. T. Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb;6(1):29–35. doi: 10.1016/1043-4682(95)90012-8. [DOI] [PubMed] [Google Scholar]
  87. Zühlke C., Riess O., Schröder K., Siedlaczck I., Epplen J. T., 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. doi: 10.1093/hmg/2.9.1467. [DOI] [PubMed] [Google Scholar]
  88. de la Monte S. M., Vonsattel J. P., Richardson E. P., 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. doi: 10.1097/00005072-198809000-00003. [DOI] [PubMed] [Google Scholar]

Articles from Molecular Medicine are provided here courtesy of The Feinstein Institute for Medical Research at North Shore LIJ

RESOURCES