Absence of mutations in the coding region of the alpha-synuclein gene in pathologically proven Parkinson's disease

Neurology. 1998 Apr;50(4):1136-7. doi: 10.1212/wnl.50.4.1136.

Abstract

A missense mutation of the alpha-synuclein gene has been associated with parkinsonism in a large Italian kindred. Recently, alpha-synuclein was also identified in Lewy bodies. Using reverse transcribed-polymerase chain reaction (RT-PCR) technique, we sequenced the entire coding region of the alpha-synuclein gene using brain tissue from 24 pathologically proven Parkinson's disease cases. No mutations were found in any of the patients, suggesting that a mutation at the coding region of the alpha-synuclein gene is unlikely to be responsible for nigrostriatal degeneration in typical sporadic Parkinson's disease.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • DNA, Complementary
  • Female
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Synucleins
  • alpha-Synuclein

Substances

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