title: PINK1 (PARK6) associated Parkinson disease in Ireland.
abstract: Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.
authors.affiliation: Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK.
authors.forename: D G
authors.initials: DG
authors.lastname: Healy
authors.forename: P M
authors.initials: PM
authors.lastname: Abou-Sleiman
authors.forename: J M
authors.initials: JM
authors.lastname: Gibson
authors.forename: O A
authors.initials: OA
authors.lastname: Ross
authors.forename: S
authors.initials: S
authors.lastname: Jain
authors.forename: S
authors.initials: S
authors.lastname: Gandhi
authors.forename: D
authors.initials: D
authors.lastname: Gosal
authors.forename: M M K
authors.initials: MM
authors.lastname: Muqit
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: T
authors.initials: T
authors.lastname: Lynch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase