Analysis of the glucocerebrosidase gene in Parkinson's disease
- 9 March 2005
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 20 (3) , 367-370
- https://doi.org/10.1002/mds.20319
Abstract
Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early‐onset PD (P = 0.048). © 2004 Movement Disorder SocietyThis publication has 19 references indexed in Scilit:
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