POLG1 in idiopathic Parkinson disease

Neurology. 2006 Nov 14;67(9):1698-700. doi: 10.1212/01.wnl.0000238963.07425.d5. Epub 2006 Aug 30.

Abstract

We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cohort Studies
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / analysis
  • DNA-Directed DNA Polymerase / genetics*
  • Exons / genetics
  • Female
  • Gene Frequency
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genetic Variation / genetics
  • Genotype
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Polymorphism, Genetic / genetics*
  • United Kingdom

Substances

  • Genetic Markers
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human