title: A common LRRK2 mutation in idiopathic Parkinson's disease.
abstract: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease.
authors.affiliation: Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
authors.forename: William P
authors.initials: WP
authors.lastname: Gilks
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Abou-Sleiman
authors.forename: Sonia
authors.initials: S
authors.lastname: Gandhi
authors.forename: Shushant
authors.initials: S
authors.lastname: Jain
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
authors.forename: Karen
authors.initials: K
authors.lastname: Shaw
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
authors.forename: John
authors.initials: J
authors.lastname: Lynch
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Healy
authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases