title: A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.
abstract: Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with PD and found mutations in six (1.6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A-->G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population.
authors.affiliation: Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA. zabetian@u.washington.edu
authors.forename: C P
authors.initials: CP
authors.lastname: Zabetian
authors.forename: A
authors.initials: A
authors.lastname: Samii
authors.forename: A D
authors.initials: AD
authors.lastname: Mosley
authors.forename: J W
authors.initials: JW
authors.lastname: Roberts
authors.forename: B C
authors.initials: BC
authors.lastname: Leis
authors.forename: D
authors.initials: D
authors.lastname: Yearout
authors.forename: W H
authors.initials: WH
authors.lastname: Raskind
authors.forename: A
authors.initials: A
authors.lastname: Griffith
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; 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