Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families

Neurology. 1999 Mar 10;52(4):849-51. doi: 10.1212/wnl.52.4.849.


The authors found a strong geographic cluster of spinocerebellar ataxia type 6 (SCA6) families in the Northrhine-Westfalia area, suggesting a founder effect in the German SCA6 population. Genotyping with DNA markers linked to the CACNL1A4 gene on chromosome 19p13 revealed a common haplotype and shared allelic characteristics in the majority of German families. The observed founder effect may be related to the relative meiotic stability of CAG repeats in this type of autosomal dominant cerebellar ataxia.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 19 / genetics
  • Founder Effect*
  • Germany
  • Haplotypes
  • Humans
  • Spinocerebellar Degenerations / genetics*