Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycine-to-serine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder.
Fung
Hon-Chung
HC
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Chen
Chiung-Mei
CM
Hardy
John
J
Hernandez
Dena
D
Singleton
Andrew
A
Wu
Yih-Ru
YR
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013624:Taiwan
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases