A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion

Mov Disord. 2004 Jul;19(7):812-816. doi: 10.1002/mds.20028.

Abstract

The importance of parkin in early-onset Parkinson's disease in Japan, Europe, and the United States is well established. The contribution of this gene to the risk of Parkinson's disease in other populations is less well known. To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity*
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Exons / genetics
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Parkinson Disease / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Turkey
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • DNA Primers
  • Ubiquitin-Protein Ligases
  • parkin protein