Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease

Neurology. 2007 Apr 3;68(14):1141-3. doi: 10.1212/01.wnl.0000254483.19854.ef. Epub 2007 Jan 10.

Abstract

We report the results of a family-based study of LRRK2 G2019S penetrance in Parkinson disease. We studied 19 families identified through the analysis of unrelated consecutive patients. The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Counseling / methods*
  • Genetic Predisposition to Disease
  • Glycine / genetics*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / genetics*
  • Penetrance*
  • Protein Serine-Threonine Kinases / genetics*
  • Serine / genetics*

Substances

  • Serine
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases
  • Glycine