The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease

Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221.

Abstract

We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA / analysis
  • Europe
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Phosphoproteins / genetics*
  • Polymerase Chain Reaction
  • Synucleins
  • White People / genetics*
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • Phosphoproteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • DNA