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Molecular Epidemiology of Spinocerebellar Ataxia Type 6

Lookup NU author(s): Kate Craig, Sharon Foster, Dr Ann Curtis, Professor Patrick Chinnery

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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.

Publication metadata

Author(s): Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2004

Volume: 55

Issue: 5

Pages: 752-755

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/ana.20110

DOI: 10.1002/ana.20110

PubMed id: 15122720

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