Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

被引：79

作者：

Bras, Jose ^{[1
,2
]}

Paisan-Ruiz, Coro ^{[1
]}

Guerreiro, Rita ^{[1
,2
]}

Ribeiro, Maria Helena ^{[2
]}

Morgadinho, Ana ^{[3
]}

Januario, Cristina ^{[3
]}

Sidransky, Ellen ^{[4
]}

Oliveira, Catarina ^{[2
]}

Singleton, Andrew ^{[1
]}

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] Univ Coimbra, Fac Med, Ctr Neurosci & Cell Biol, Coimbra, Portugal

[3] Coimbra Univ Hosp, Neurol Serv, Coimbra, Portugal

[4] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

NEUROBIOLOGY OF AGING | 2009年 / 30卷 / 09期

基金：

美国国家卫生研究院;

关键词：

Case control study; Genetic association; Parkinson disease; GAUCHER-DISEASE; GENE;

D O I：

10.1016/j.neurobiolaging.2007.11.016

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intron/exon boundaries, of the glucocerebrosidase gene, in a total of 230 patients and 430 controls. We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls. These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：1515 / 1517

页数：3

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