No pathogenic mutations in the beta-synuclein gene in Parkinson's disease

Neurosci Lett. 1999 Jul 9;269(2):107-9. doi: 10.1016/s0304-3940(99)00420-6.

Abstract

We present 11 families consistent with autosomal dominant inheritance of probable Parkinson's disease (PD). Although excluded as a cause of disease in these kindreds, mutations in the alpha-synuclein gene have been implicated in familial PD. The beta-synuclein gene is highly homologous, expressed in the nervous system and thus is a good candidate gene for PD. Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 5
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Pedigree
  • Synucleins
  • alpha-Synuclein
  • beta-Synuclein

Substances

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