GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies

被引：33

作者：

Gamez-Valero, Ana ^{[1
,2
,3
]}

Prada-Dacasa, Patricia ^{[1
,2
,4
]}

Santos, Cristina ^{[4
]}

Adame-Castillo, Cristina ^{[1
,2
]}

Campdelacreu, Jaume ^{[5
]}

Rene, Ramon ^{[5
]}

Gascon-Bayarri, Jordi ^{[5
]}

Ispierto, Lourdes ^{[6
]}

Alvarez, Ramiro ^{[6
]}

Ariza, Aurelio ^{[1
,2
]}

Beyer, Katrin ^{[1
,2
]}

机构：

[1] Univ Autonoma Barcelona, Hosp Univ, Dept Pathol, Barcelona, Spain

[2] Univ Autonoma Barcelona, Hlth Sci Res Inst Germans Trias & Pujol, Barcelona, Spain

[3] Hlth Sci Res Inst Germans Trias & Pujol, IVECAT Grp, Badalona, Spain

[4] Univ Autonoma Barcelona, Dept Biol Anim Biol Vegetal & Ecol, Unitat Antropol Biol, Barcelona, Spain

[5] Hosp Univ Bellvitge, Dept Neurol, Lhospitalet De Llobregat, Spain

[6] Hosp Badalona Germans Trias & Pujol, Dept Neurol, Barcelona, Spain

来源：

MOVEMENT DISORDERS | 2016年 / 31卷 / 07期

关键词：

GBA mutations; Parkinson's disease; dementia with Lewy bodies; SPORADIC PARKINSONS-DISEASE; GLUCOCEREBROSIDASE MUTATIONS; GAUCHER-DISEASE; ALPHA-SYNUCLEIN; BODY DISORDERS; RISK-FACTOR; MULTICENTER; PATHOLOGY; GENE;

D O I：

10.1002/mds.26593

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：1066 / 1070

页数：5

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