Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

Nature Genetics

Volumn 8, Issue 3, 1994, Pages 280-284

  Ranum, Laura P W ^a   Schut, Lawrence J ^a   Lundgren, Julie K ^a   Orr, Harry T ^a   Livingston, Dennis M ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTROMERE; CEREBELLAR ATAXIA; CHROMOSOME 11; CHROMOSOME MAP; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; SPINOCEREBELLAR TRACT; TANDEM REPEAT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FAMOUS PERSONS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HISTORY, 18TH CENTURY; HUMANS; LOD SCORE; MALE; MIDDLE AGED; MINISATELLITE REPEATS; PEDIGREE; SPINOCEREBELLAR DEGENERATIONS;

ATAXIA;

EID: 0028020605     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1194-280     Document Type: Article

References (42)

1. Harding, A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: a study of 11 families, including descendants of 'The Drew Family of Walworth'. Brain 105, 1-28 (1982).
2. Zoghbi, H.Y. The spinocerebellar degenerations. Curr. Neurol. 11, 121-144 (1991).
3. Schut, J.W. Hereditary ataxia: Clinical study through six generations.Archs. Neurol. Psychiat. 63, 535-586 (1950).
4. Nino, H.E. et al. A family with hereditary ataxia: HLA typing. Neurology 3O, 12-20(1980).
5. Haines, J.L., Schut, L.J., Weitkamp, L.R., Thayer, M. & Anderson, V.E Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 34, 1542-1548 (1984).
6. Zoghbi, H.Y. et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23, 580-584 (1988).
7. Orozco Diaz, G., Nodarse Fleites, A., Cordoves Sagaz, R. & Auburger, G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40, 1369-1375 (1990).
8. Barbeau, A. et al. The natural history of Machado-Joseph disease An analysis of 138 personally examined cases. Can. J. neurol. Sci. 11, 510-525 (1984).
9. Rosenberg, R.N. Machado-Joseph disease: an autosomal dominant system degeneration. Mov. Dis. 7, 193-203 (1992).
10. Jackson, J.F., Currier, R.D., Terasaki, P.I. & Morton, N.E. Spinocerebellar ataxia and HLA linkage-risk prediction by HLA typing. New Engl. J. Med.296, 1138-1141 (1977).
11. Ranum, L.P.W. et al. Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds within an 8-cM subregion of chromosome 6p. Am. J. hum. Genet. 49, 31-41 (1991).
12. Zoghbi, H.Y. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am. J. hum. Genet. 49, 23-30 (1991).
13. Kwiatkowski, T.J. Jr., et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am. J. hum. Genet. 53, 391-400 (1993).
14. Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
15. Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300-304 (1993).
16. Stevanin, G. et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am. J. hum. Genet. 54 11-20 (1994).
17. Gardner, K. et al. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 44, A361 (1994).
18. Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 211-226 (1993).
19. Ranum, L. et al. Molecular and clinical correlations in spinocerebellar ataxia type I (SCA1): evidence for familial effects on the age at onset.Am. J. hum. Genet. 55, 244-252 (1994).
20. Jodice, C. et al. Effect of trinucleotide repeat length and parental sex onphenotypic variation in spinocerebellar ataxia. Arn. J. hum. Genet. 54, 959-965 (1994).
21. Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
22. Verkerk, A.J.M.H. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 65, 905-914 (1991).
23. Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Cell 67, 1047-1058 (1991).
24. Knight, S. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
25. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Hardin, A.E. & Fischback, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
26. Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1992).
27. Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545-546 (1992).
28. Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253-1255 (1992).
29. Huntington's disease collaborative research group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
30. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
31. Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
32. Burke, J. et al. The Haw-River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet. 7, 521-524 (1994).
33. Hoffman, P.M., Stuart, W.H., Earle, K.M. & Brody, J.A. Hereditary late-onset cerebellar degeneration. Neurology 21, 771-777 (1971).
34. Frontali, M. et al. Autosomal dominant pure cerebellar ataxia: neurological and genetic study. Brain 115, 1647-1654 (1992).
35. Buetow, K.H. et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 6, 391-396 (1994).
36. Terwilliger, J. & Ott, J. Handbook of human genetic linkage (Johns Hopkins University Press, Baltimore, 1994).
37. Keats, B.J.B. et al. Guidelines for human linkage maps: an international system for human linkage maps (ISLM 1990). Genomics 9, 557-560 (1991).
38. Chung, M.-Y., Ranum, L.P.W., 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 1. Nature Genet. 5, 254-258 (1993).
39. Bell, G.I., Kavam, J. & Putter, W. Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc. natn. Acad. Sci U.S.A. 78, 5759-5763 (1981).
40. Weber, J.L. et al. Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19. Am. J. hum. Genet. 53, 1079-1095 (1993).
41. Gyapay, G. et al. The 1993-94 Genethon human genetic linkage map.Nature Genet. 7, 246-339 (1994).
42. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443-3446 (1984).