Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype-genotype correlation

被引：60

作者：

Aharon-Peretz, J ^{[1
]}

Badarny, S

Rosenbaum, H

Gershoni-Baruch, R

机构：

[1] Rambam Med Ctr, Cognit Neurosci Unit, Haifa, Israel

[2] Rambam Med Ctr, Dept Neurol, Haifa, Israel

[3] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[4] Carmel Hosp, Dept Neurol, Haifa, Israel

来源：

NEUROLOGY | 2005年 / 65卷 / 09期

关键词：

D O I：

10.1212/01.wnl.0000176987.47875.28

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.

引用

页码：1460 / 1461

页数：2

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