G2019S LRRK2 mutation in French and North African families with Parkinson's disease

Ann Neurol. 2005 Nov;58(5):784-7. doi: 10.1002/ana.20636.

Abstract

Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.

Publication types

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

MeSH terms

  • Adult
  • Africa, Northern / epidemiology
  • Africa, Northern / ethnology
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis / methods
  • Family Health*
  • Female
  • France / epidemiology
  • France / ethnology
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Glycine / genetics*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Mental Status Schedule / statistics & numerical data
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • 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