Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease

Neurology. 1998 Dec;51(6):1757-9. doi: 10.1212/wnl.51.6.1757.

Abstract

A mutation within the alpha-synuclein gene on human chromosome 4 has been reported to segregate with PD in an Italian family. We screened a sample of familial cases of PD for mutation in the alpha-synuclein gene. None of the familial cases of PD carried a mutation within the alpha-synuclein gene, and no association was detected between PD and alleles of a dinucleotide repeat marker within the alpha-synuclein gene. We conclude that variation within the alpha-synuclein gene does not play a significant role in the risk for PD in our sample.

Publication types

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

MeSH terms

  • Aged
  • Alleles
  • Chromosomes, Human, Pair 4*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Phosphoproteins / genetics
  • Point Mutation*
  • Polymorphism, Genetic
  • Synucleins
  • alpha-Synuclein

Substances

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