Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

Neurology. 2006 Feb 14;66(3):415-7. doi: 10.1212/01.wnl.0000196492.80676.7c.

Abstract

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Asparagine
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Glucosylceramidase / genetics*
  • Heterozygote
  • Humans
  • Leucine
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • Proline
  • Serine

Substances

  • Serine
  • Asparagine
  • Proline
  • Glucosylceramidase
  • Leucine