Molecular epidemiology of spinocerebellar ataxia type 6
2004; Wiley; Volume: 55; Issue: 5 Linguagem: Inglês
10.1002/ana.20110
ISSN1531-8249
AutoresKate Craig, Sharon Keers, Kate E. Archibald, Ann Curtis, Patrick F. Chinnery,
Tópico(s)DNA Repair Mechanisms
ResumoAbstract 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.
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