GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies
GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies
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DOI：
10.1002/mds.26593
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发表时间：
2016-07-01
影响因子：
8.6
通讯作者：
Beyer, Katrin
中科院分区：
文献类型：
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作者：
Gamez-Valero, Ana;Prada-Dacasa, Patricia;Beyer, Katrin
研究背景帕金森病(Parkinson‘s Disease，PD)和路易体痴呆(DLb)是两种具有相似病理特征的路易体疾病。一些研究表明，葡萄糖脑苷酶基因(GBA)的改变与LB病的发生有关。方法对50例DLB脑组织(50例DLB脑、43例PD脑组织和34例对照脑组织)和47例DLB脑患者和131例正常脑组织的GBA基因进行了序列分析。最常见的突变E326K与单纯DLB和帕金森病合并痴呆密切相关。结论GBA突变也是西班牙人群中发生DLB的一个重要危险因素，与较早发病有关，且在男性中更为常见。(C)2015年国际帕金森病和运动障碍协会
BackgroundParkinson's disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by similar pathological features. Several studies have shown a relation between alterations in the glucocerebrosidase gene (GBA) and the development of LB diseases. Here, we explored the role of GBA mutations in Spanish DLB patients.MethodsGBA mRNA sequences were analyzed in a neuropathological (50 DLB, 43 PD, and 34 control brains) and in a clinical cohort (47 DLB patients and 131 unaffected individuals).ResultsSixteen GBA mutation carriers were identified, 5 of which were brains with pure DLB. The most common mutation, E326K, was strongly associated with pure DLB and PD with dementia. GBA mutations were overrepresented in men and associated with earlier DLB onset.ConclusionsGBA mutations are also an important risk factor for DLB development in the Spanish population, are associated with earlier disease onset, and are more prevalent in men. (c) 2015 International Parkinson and Movement Disorder Society