Molecular epidemiology of spinocerebellar ataxia type 6
- 26 April 2004
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 55 (5) , 752-755
- https://doi.org/10.1002/ana.20110
Abstract
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.Keywords
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