title: 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.
authors.affiliation: Neurology, University Newcastle upon Tyne, United Kingdom.
authors.forename: Kate
authors.initials: K
authors.lastname: Craig
authors.forename: Sharon M
authors.initials: SM
authors.lastname: Keers
authors.forename: Kate
authors.initials: K
authors.lastname: Archibald
authors.forename: Ann
authors.initials: A
authors.lastname: Curtis
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000483:Alleles; D016001:Confidence Intervals; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D017720:Molecular Epidemiology; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*