Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Mov Disord. 2006 Sep;21(9):1526-30. doi: 10.1002/mds.20977.

Abstract

PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Female
  • Genetic Carrier Screening*
  • Genetic Predisposition to Disease / genetics*
  • Germany
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Neurologic Examination
  • Oncogene Proteins / genetics
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics*
  • Pedigree
  • Protein Deglycase DJ-1
  • Protein Kinases / genetics*
  • Ubiquitin-Protein Ligases / genetics
  • Yugoslavia

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • PTEN-induced putative kinase
  • PARK7 protein, human
  • Protein Deglycase DJ-1