SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

Journal of the Neurological Sciences

Volumn 156, Issue 1, 1998, Pages 89-95

  Yabe, Ichiro ^a   Sasaki, Hidenao ^a   Matsuura, Tohru ^a   Takada, Akio ^a   Akemi Wakisaka, ^a   Suzuki, Yoshihiro ^b   Fukazawa, Toshiyuki ^c   Hamada, Takeshi ^c   Oda, Tatsuro ^d   Ohnishi, Akio ^e   Tashiro, Kunio ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c Hokuyukai Neurological Hospital   (Japan)

^d National Hospital Organization Shimofusa Psychiatric Medical Center   (Japan)

^e UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

ADCA III; Ataxia; CAG repeat; SCA6; Spinocerebellar degeneration; Triplet repeat disorder

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 19P; CLINICAL FEATURE; DISEASE TRANSMISSION; DNA SEQUENCE; DYSARTHRIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MIGRAINE; NYSTAGMUS; ONSET AGE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ADULT; AGE OF ONSET; AGED; ALLELES; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 19; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; JAPAN; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0032539787     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00009-4     Document Type: Article

References (31)

1. Benomar A., Krols L., Stevanin G.et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p 12-p21.1. Nat. Genet. 10:1995;84-88.
2. Burke J.R., Ikeuchi T., Koide R.et al. Dentatorubral-pallidoluysian atrophy and Haw River syndrome. Lancet. 344:1994;1711-1712.
3. Flanigan K., Gardner K., Alderson K.et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 59:1996;392-399.
4. Frontali M., Spadaro M., Giunti P.et al. Autosomal dominant pure cerebellar ataxia - Neurological and genetic study. Brain. 115:1992;1647-1654.
5. Geschwind D.H., Perlman S., Figueroa C.P., Treiman L.J., Pulst S.M. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet. 60:1997;842-850.
6. Gouw L.G., Kaplan C.D., Haines J.H.et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat. Genet. 10:1995;89-93.
7. Harding, A.E., 1984. Autosomal dominant cerebellar ataxia of late onset. In: The Hereditary Ataxias and Related Disorders. Churchill Livingstone, New York, pp. 129-173.
8. Hirayama K., Takayanagi T., Nakamura R. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand. 153:1994;1-22.
9. Ihara T., Sasaki H., Wakisaka A.et al. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jpn J Hum Genet. 39:1994;305-313.
10. Imbert G., Sandou F., Yvert G.et al. Cloning of the gene for spinocerebellar ataxia type 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 14:1996;285-291.
11. Ishikawa K., Mizusawa H., Saito M. Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. Brain. 119:1996;1173-1182.
12. Kawaguchi Y., Okamoto T., Taniwaki M.et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-227.
13. Koide R., Ikeuchi T., Onodera O.et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 6:1994;9-13.
14. Llinas R., Sugimori M., Hillman D.E., Chelksey B. Distribution and functional significance of the p-type, voltage dependent Ca channels in the mammalian central nerve system. Trends Neurosci. 15:1992;351-355.
15. La Spada A.R., Wilson E.M., Lubhn D.B., Harding A.E., Fishberg K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79.
16. Lopes-Cendes I., Andermann E., Rouleau G.A. Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus. Genomics. 21:1994;270-274.
17. Maciel P., Gaspar C., DeStefano A.L.et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 57:1995;54-61.
18. Mori Y., Friedreich T., Kim M.et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature. 350:1991;398-402.
19. Nagafuchi S., Yanagisawa H., Sato K.et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 6:1994;14-18.
20. Orr H.T., Chung M.Y., Banfi S.et al. Expansion of unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-2262.
21. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 26:1974;588-594.
22. Pulst S.M., Nechiporuk A., Gispert S.et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 14:1996;269-2765.
23. Ranum L., Schut L., Lundgren J., Orr H., Livingston D. Spinocerebellar ataxia type 5 in a family descended from the grandparents of president Lincoln maps to chromosome 11. Nat Genet. 8:1994;280-284.
24. Sanpei K., Takano H., Igarashi S.et al. Identification of the gene for spinocerebellar ataxia type 2 (SCA2) using a direct identification of repeat expansion and cloning technique (DIRECT). Nat Genet. 14:1996;277-2844.
25. Sasaki H. Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes. Clin Neurol. 33:1993;1285-1287. In Japanese.
26. Subramony S.H., Fratkin J.D., Manyan B.V., Currier R.D. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov. Disord. 11:1996;174-180.
27. Suzuki Y., Sasaki H., Wakisaka A.et al. Spinocerebellar ataxia 1 (SCAl) in the Japanese: Analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission. Jpn J Hum. Genet. 40:1995;131-143.
28. Takiyama Y., Igarashi S., Rogaeva E.A.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. 4:1995;1137-1146.
29. The Huntington's disease collaborative research group., 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72:971-983.
30. Trottier Y., Lutz Y., Stevanin G.et al. Polyglutamine expansion as a pathogenic epitope in Huntington's disease and four dominant cerebellar ataxias. Nature. 378:1995;403-405.
31. 1A-voltage-dependent calcium channel. Nat. Genet. 15:1997;62-69.