Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
letter
. 1997 Apr;60(4):993–996.

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

P Maciel, I Lopes-Cendes, S Kish, J Sequeiros, G A Rouleau
PMCID: PMC1712490  PMID: 9106546

Full text

PDF
993

Images in this article

995Figure 1
on p.995

Selected References

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

  1. Banfi S., Servadio A., Chung M. Y., Kwiatkowski T. J., Jr, McCall A. E., Duvick L. A., Shen Y., Roth E. J., Orr H. T., Zoghbi H. Y. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513–520. doi: 10.1038/ng0894-513. [DOI] [PubMed] [Google Scholar]
  2. Chong S. S., McCall A. E., Cota J., Subramony S. H., Orr H. T., Hughes M. R., Zoghbi H. Y. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1995 Jul;10(3):344–350. doi: 10.1038/ng0795-344. [DOI] [PubMed] [Google Scholar]
  3. Chung M. Y., Ranum L. P., Duvick L. A., Servadio A., Zoghbi H. Y., Orr H. T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet. 1993 Nov;5(3):254–258. doi: 10.1038/ng1193-254. [DOI] [PubMed] [Google Scholar]
  4. Coutinho P., Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology. 1978 Jul;28(7):703–709. doi: 10.1212/wnl.28.7.703. [DOI] [PubMed] [Google Scholar]
  5. Coutinho P., Guimarães A., Scaravilli F. The pathology of Machado-Joseph disease. Report of a possible homozygous case. Acta Neuropathol. 1982;58(1):48–54. doi: 10.1007/BF00692697. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Kanda T., Isozaki E., Kato S., Tanabe H., Oda M. Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system. Clin Neuropathol. 1989 May-Jun;8(3):134–141. [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. La Spada A. R., Wilson E. M., Lubahn D. B., Harding A. E., Fischbeck K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77–79. doi: 10.1038/352077a0. [DOI] [PubMed] [Google Scholar]
  11. Lopes-Cendes I., Maciel P., Kish S., Gaspar C., Robitaille Y., Clark H. B., Koeppen A. H., Nance M., Schut L., Silveira I. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol. 1996 Aug;40(2):199–206. doi: 10.1002/ana.410400211. [DOI] [PubMed] [Google Scholar]
  12. Orr H. T., Chung M. Y., Banfi S., Kwiatkowski T. J., Jr, Servadio A., Beaudet A. L., McCall A. E., Duvick L. A., Ranum L. P., Zoghbi H. Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221–226. doi: 10.1038/ng0793-221. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Robitaille Y., Schut L., Kish S. J. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol. 1995;90(6):572–581. doi: 10.1007/BF00318569. [DOI] [PubMed] [Google Scholar]
  15. Rosenberg R. N., Nyhan W. L., Bay C., Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology. 1976 Aug;26(8):703–714. doi: 10.1212/wnl.26.8.703. [DOI] [PubMed] [Google Scholar]
  16. Sakai T., Ohta M., Ishino H. Joseph disease in a non-Portuguese family. Neurology. 1983 Jan;33(1):74–80. doi: 10.1212/wnl.33.1.74. [DOI] [PubMed] [Google Scholar]
  17. 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]
  18. Servadio A., Koshy B., Armstrong D., Antalffy B., Orr H. T., Zoghbi H. Y. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet. 1995 May;10(1):94–98. doi: 10.1038/ng0595-94. [DOI] [PubMed] [Google Scholar]
  19. Takano H., Onodera O., Takahashi H., Igarashi S., Yamada M., Oyake M., Ikeuchi T., Koide R., Tanaka H., Iwabuchi K. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am J Hum Genet. 1996 Jun;58(6):1212–1222. [PMC free article] [PubMed] [Google Scholar]
  20. Telenius H., Kremer B., Goldberg Y. P., Theilmann J., Andrew S. E., Zeisler J., Adam S., Greenberg C., Ives E. J., Clarke L. A. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet. 1994 Apr;6(4):409–414. doi: 10.1038/ng0494-409. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. Ueno S., Kondoh K., Kotani Y., Komure O., Kuno S., Kawai J., Hazama F., Sano A. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet. 1995 Apr;4(4):663–666. doi: 10.1093/hmg/4.4.663. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES