Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045.


Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the long arm of human chromosome 4. A mutation was identified in the alpha-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Greece
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Parkinson Disease / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Structure, Secondary
  • Synucleins
  • alpha-Synuclein


  • Genetic Markers
  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein

Associated data

  • GENBANK/L08850
  • GENBANK/L33860
  • GENBANK/U46898
  • SWISSPROT/P33567
  • SWISSPROT/P37377
  • SWISSPROT/P37379
  • SWISSPROT/P37840