LRRK2 R1441G in Spanish patients with Parkinson's disease

Neurosci Lett. 2005 Jul 15;382(3):309-11. doi: 10.1016/j.neulet.2005.03.033. Epub 2005 Apr 13.

Abstract

Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2 4321C>G (R1441G) mutation was originally identified in Spanish families originating from the Basque region. Within this ethnicity, Lrrk2 R1441G substitutions have been suggested as a frequent cause of disease. Herein we have assessed another referral-based series of 225 patients with PD from the neighboring region of Asturias, Northern Spain. The LRRK2 4321C>G mutation was found in 5 (2.7%) of sporadic, late-onset patients and was not present in control subjects. Although patients with a Lrrk2 R1441G substitution are apparently unrelated, they share a chromosome 12q12 haplotype not found in controls and indicative of a common founder.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Protein Serine-Threonine Kinases / genetics*
  • Spain

Substances

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