title: Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
abstract: Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson's disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia. However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients. To determine the prevalence of PINK1 mutation in Taiwanese population, we conducted genetic analysis of PINK1 mutation in 73 early onset sporadic PD and 94 normal control subjects. We only identified a novel single heterozygous mutation R 407Q mutation in exon 6 of this gene in one patient at the age onset of 54. Overall, these data indicate that PINK1 mutations are rare in our population. Based on our results, unless common mutational hotspots are identified, routine testing for this mutation at least in our population may not be cost-effective.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tun-Hwa North Road, Taipei 10591, Taiwan.
authors.forename: Hon-Chung
authors.initials: HC
authors.lastname: Fung
authors.forename: Chiung-Mei
authors.initials: CM
authors.lastname: Chen
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: Guey-Jen
authors.initials: GJ
authors.lastname: Lee-Chen
authors.forename: Yih-Ru
authors.initials: YR
authors.lastname: Wu
mesh_terms: D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D013624:Taiwan; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase