G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Mov Disord. 2005 Dec;20(12):1653-5. doi: 10.1002/mds.20682.

Abstract

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Glycine / genetics*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / genetics*
  • Portugal / epidemiology
  • 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