Case-Control Study of the Parkin Gene in Early-Onset Parkinson Disease
Open Access
- 1 April 2006
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 63 (4) , 548-552
- https://doi.org/10.1001/archneur.63.4.548
Abstract
Mutations in 4 genes, α-synuclein (PARK1),1,2parkin (PARK2),3DJ-1 (PARK7),4-6 and PINK1 (PARK6),7-11 are associated with early-onset Parkinson disease (EOPD). Parkin mutations account for the majority of familial and sporadic EOPD cases with a known genetic association.3,12 In PD cases with age at onset (AAO) of 45 years or younger, the frequency of parkin mutations is estimated at 49% in cases with a family history of PD13 and 15% in cases without a family history of PD.14 In the only community-based study, the frequency of mutations was 9% in 111 cases with AAO of 50 years or younger.15Keywords
This publication has 1 reference indexed in Scilit:
- RING finger 1 mutations in Parkin produce altered localization of the proteinHuman Molecular Genetics, 2003