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Molecular epidemiology of spinocerebellar ataxia type 6
Author(s) -
Craig Kate,
Keers Sharon M.,
Archibald Kate,
Curtis Ann,
Chinnery Patrick F.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20110
Subject(s) - confidence interval , epidemiology , spinocerebellar ataxia , population , ataxia , microsatellite , medicine , genetics , biology , gene , psychiatry , allele , environmental health
We performed a population‐based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04–2.14), and the number of individuals who either had SCA6 or are at risk of developing SCA6 was at least 5.21 in 100,000 (95% CI, 4.31–6.10), or 1 in 19,210. Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region.