Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

被引：75

作者：

Toft, M ^{[1
]}

Pielsticker, L

Ross, OA

Aasly, JO

Farrer, MJ

机构：

[1] Norwegian Univ Sci & Technol, Dept Neurosci, N-7489 Trondheim, Norway

[2] Mayo Clin, Coll Med, Dept Neurosci, Jacksonville, FL 32224 USA

[3] St Olavs Hosp, Dept Neurol, Trondheim, Norway

来源：

NEUROLOGY | 2006年 / 66卷 / 03期

关键词：

D O I：

10.1212/01.wnl.0000196492.80676.7c

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.

引用

页码：415 / 417

页数：3

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