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Analysis of the glucocerebrosidase gene in Parkinson's disease

✍ Scribed by Christine Sato; Angharad Morgan; Anthony E. Lang; Shabnam Salehi-Rad; Toshitaka Kawarai; Yan Meng; Peter N. Ray; Lindsay A. Farrer; Peter St George-Hyslop; Ekaterina Rogaeva

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
184 KB
Volume
20
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048). Β© 2004 Movement Disorder Society

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