title: POLG1 in idiopathic Parkinson disease.
abstract: We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
authors.affiliation: Department of Neurology, University of Newcastle upon Tyne, UK.
authors.forename: W
authors.initials: W
authors.lastname: Tiangyou
authors.forename: G
authors.initials: G
authors.lastname: Hudson
authors.forename: D
authors.initials: D
authors.lastname: Ghezzi
authors.forename: G
authors.initials: G
authors.lastname: Ferrari
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: D J
authors.initials: DJ
authors.lastname: Burn
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000368:Aged; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000032:analysis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D006113:United Kingdom
chemical_list: D005819:Genetic Markers; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human