A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan.
- 1 May 2001
- journal article
- research article
- Published by S. Karger AG in Neuroepidemiology
- Vol. 20 (2) , 144-149
- https://doi.org/10.1159/000054775
Abstract
We investigated the genotype frequencies of patients with spinocerebellar ataxias (SCA), using a community-based prevalence study among 613,349 inhabitants in Tottori prefecture, Japan. Prevalence date was April 1, 1998. On this date, 109 SCA patients were identified in this community. The prevalence of SCA was 17.8 per 100,000 individuals. The most common cause of inherited SCA was a mutation at the SCA6 locus (25%), followed by mutation at the SCA1 locus (15%), SCA3 locus (5%) and dentatorubral-pallidoluysian atrophy locus (5%). None of the expanded alleles was found in SCA2, SCA7 or Friedreich's ataxia. Mutation at SCA6 was also the most common form of sporadic SCA at 11%. Prevalences per 100,000 individuals were as follows: SCA6, 2.40; SCA1, 0.48; DRPLA, 0.32, and SCA3, 0.16.Keywords
This publication has 10 references indexed in Scilit:
- An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)Nature Genetics, 1999
- Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian PopulationsAmerican Journal of Human Genetics, 1998
- Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionNature Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 1996
- CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Nature Genetics, 1994
- Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor geneNature Genetics, 1994
- Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12pNature Genetics, 1994
- Novel Triplet Repeat Containing Genes in Human Brain: Cloning, Expression, and Length PolymorphismsGenomics, 1993
- Sequence identification of 2,375 human brain genesNature, 1992