A novel α-synuclein missense mutation in Parkinson disease

Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.

Abstract

Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged, 80 and over
  • Amino Acid Sequence
  • Amino Acid Substitution / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Parkinson Disease / diagnosis*
  • Parkinson Disease / genetics*
  • alpha-Synuclein / genetics*

Substances

  • alpha-Synuclein