Molecular epidemiology of spinocerebellar ataxia type 6.

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.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Craig K,Keers SM,Archibald K,Curtis A,Chinnery PF

doi

10.1002/ana.20110

keywords:

subject

Has Abstract

pub_date

2004-05-01 00:00:00

pages

752-5

issue

5

eissn

0364-5134

issn

1531-8249

journal_volume

55

pub_type

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