Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease

Neurology. 1998 Feb;50(2):513-4. doi: 10.1212/wnl.50.2.513.

Abstract

The missense G209A mutation at exon 4 of the alpha-synuclein gene was recently found to be responsible for familial Parkinson's disease (PD) in a large kindred of Italian descent. We studied 100 typical PD patients with onset before age 51, both with and without a family history of PD. We did not find this alpha-synuclein missense mutation in any patient, but it was present in a symptomatic member of the Contursi family.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Bacterial Proteins*
  • Exons
  • Female
  • Humans
  • Male
  • Medical Records
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Family
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Point Mutation*
  • Site-Specific DNA-Methyltransferase (Adenine-Specific)
  • Synucleins
  • alpha-Synuclein

Substances

  • Bacterial Proteins
  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • Tsp45I methylase, Thermus sp. YS45
  • Site-Specific DNA-Methyltransferase (Adenine-Specific)