Taiwanese cases of SCA2 are derived from a single founder

Mov Disord. 2005 Dec;20(12):1633-6. doi: 10.1002/mds.20638.

Abstract

We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Ataxia / genetics*
  • Ataxins
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Taiwan / ethnology

Substances

  • Ataxins
  • Nerve Tissue Proteins