GBA 突变与快速眼动睡眠行为障碍有关。

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

机构信息

Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada.

Department of Neurology, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel.

出版信息

Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.

Abstract

Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson's disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (n = 120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.

摘要

快速眼动睡眠行为障碍和 GBA 突变均与帕金森病有关。我们对特发性快速眼动睡眠行为障碍患者(n=265)进行了 GBA 基因测序,并与对照组(n=2240)进行了比较。我们对一个独立的帕金森病队列(n=120)进行了快速眼动睡眠行为障碍问卷评估。GBA 突变携带者发生快速眼动睡眠行为障碍的 OR 为 6.24(患者中为 10.2%,对照组中为 1.8%,P<0.0001),而在帕金森病患者中,突变携带者发生可能的快速眼动睡眠行为障碍的 OR 为 3.13(P=0.039)。这些结果表明,快速眼动睡眠行为障碍与 GBA 突变有关,结合遗传和前驱期数据可能有助于识别易患帕金森病的个体。

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