POLG1 in idiopathic Parkinson disease.

TitlePOLG1 in idiopathic Parkinson disease.
Publication TypeJournal Article
Year of Publication2006
AuthorsTiangyou, W, Hudson, G, Ghezzi, D, Ferrari, G, Zeviani, M, Burn, DJ, Chinnery, PF
JournalNeurology
Volume67
Issue9
Pagination1698-700
Date Published2006 Nov 14
ISSN1526-632X
KeywordsAged, Cohort Studies, DNA Mutational Analysis, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Exons, Female, Gene Frequency, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genotype, Humans, Italy, Male, Middle Aged, Mutation, Parkinson Disease, Polymorphism, Genetic, United Kingdom
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.

DOI10.1212/01.wnl.0000238963.07425.d5
Alternate JournalNeurology
Citation Key10.1212/01.wnl.0000238963.07425.d5
PubMed ID16943369
Grant ListGGP030039 / / Telethon / Italy