Molecular epidemiology of spinocerebellar ataxia type 6

Ann Neurol. 2004 May;55(5):752-5. doi: 10.1002/ana.20110.


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 types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Confidence Intervals
  • Gene Frequency / genetics
  • Humans
  • Middle Aged
  • Molecular Epidemiology
  • Spinocerebellar Ataxias / epidemiology*
  • Spinocerebellar Ataxias / genetics*