Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
作者： M Toft , L Pielsticker , OA Ross , JO Aasly , MJ Farrer
DOI: 10.1212/01.WNL.0000196492.80676.7C
关键词: Allele 、 Ashkenazi jews 、 Gene mutation 、 Degenerative disease 、 Glucocerebrosidase 、 Population 、 Genetics 、 Biology 、 Gene 、 Mutation
摘要: An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD 474 controls for 2 common functional GBA protein, N370S L444P. Seven (2.3%) 8 (1.7%) carried mutant allele (p = 0.58). This study does not indicate increased susceptibility to carriers Norway.
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