Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

Mov Disord. 2010 Oct 30;25(14):2340-5. doi: 10.1002/mds.23278.

Abstract

The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aged
  • Aged, 80 and over
  • Arginine / genetics*
  • Family
  • Female
  • Glycine / genetics*
  • Humans
  • Incidence
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Penetrance*
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Spain / epidemiology
  • Spain / ethnology

Substances

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