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Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.

Original publication

DOI

10.1007/s007020170017

Type

Journal article

Journal

J neural transm (vienna)

Publication Date

2001

Volume

108

Pages

979 - 984

Keywords

Age of Onset, Aged, DNA Mutational Analysis, Female, France, Gene Frequency, Genetic Testing, Genotype, Humans, Male, Middle Aged, Mutation, Parkinson Disease, Polymorphism, Genetic, Sex Factors, Thiolester Hydrolases, Ubiquitin Thiolesterase