% 0期刊文章%齐夫Gan-Or %尼古拉•罗纳德·Postuma迪普雷% %克莱尔LeBlond %一个阿娜特Mirelman %一个Nir Giladi Avi Orr-Urtreger % %一个让亚历克斯Desautels伊莎贝拉•阿努尔夫% % Gagnon %一个苏珊Bressman Birgit Frauscher % %一个卡伦·马德尔%罗伊Alcalay % Christelle Monaca %一个Birgit Hogl Yves Dauvilliers % %雅克Montplaisir %帕特里克·迪翁%一个卷轴% T GBA突变在REM睡眠行为障碍和帕金森病(S19.007) % D J神经病学2016% % P S19.007 X % V % 86% N 16补充目的:我们研究是否GBA突变与REM睡眠行为障碍(RBD)和RBD-associated帕金森病(PD)。首页背景:RBD患者可能进步PD,路易体痴呆(精神的小黑裙)或多系统萎缩(MSA)。RBD PD患者患老年痴呆症的风险增加,自主功能障碍PD和更快的发展。同样,GBA突变也与帕金森病有关,小黑裙和MSA和GBA-associated PD患者也更容易患痴呆症,自主功能障碍PD和更快的发展。方法:GBA基因测序在PD (n = 525), RBD (n = 265)和控制(n = 691)的法裔加拿大人/法国的起源。欧洲控制GBA测序数据收集(n = 2240)。RBD筛查了120年德系犹太人PD患者以前创始人GBA突变的基因型。GBA轨迹的数据是522年从全基因组关联研究PD患者,350 RBD病人和897个对照组的法裔加拿大人/法国起源(包括病人和控制GBA基因测序)。结果:GBA突变被发现在10.2 [percnt] RBD, 4.6 PD (percnt)和1.3 (percnt)在我们的内部控制和1.8 (percnt)公布的欧洲血统控制所有的比较(p < 0.001)。GBA-associated PD患者较高的积极筛查可能RBD PD患者相比无GBA突变(47 (percnt)和24 [percnt], p = 0.026)。 In the GBA locus, the strongest marker among RBD patients, rs2230288 (p=1x10-5), was stronger than the marker among PD patient, rs35777901, (p=3x10-4), compared to healthy controls. CONCLUSIONS: GBA mutations and variants are more strongly associated with RBD and with RBD-associated PD, than with PD patients without RBD or sporadic PD. These results suggest that early screening of GBA mutation carriers for RBD may be useful for early identification of individuals who will eventually develop a synucleinopathy. Study Supported by the Michael J. Fox Foundation.Disclosure: Dr. Gan-Or has nothing to disclose. Dr. Dupre has nothing to disclose. Dr. Postuma has received personal compensation for activities with Roche Diagnostics Corporation and Biotie Therapies. Dr. LeBlond has nothing to disclose. Dr. Mirelman has nothing to disclose. Dr. Orr-Urtreger has nothing to disclose. Dr. Giladi has received personal compensation for activities with Teva-Lundbeck, Merz Inc., UCB, Intec Pharma, and NeuroDerm Inc. Dr. Arnulf has received research support from Bioprojet. Dr. Desautels has nothing to disclose. Dr. Gagnon has nothing to disclose. Dr. Frauscher has received personal compensation for activities with Pfizer Inc as a consultant. Dr. Bressman has nothing to disclose. Dr. Marder has received personal compensation in an editorial capacity for Current Neuroscience. Dr. Alcalay has received personal compensation for travel support and consultation fees from Genzyme/Sanofi and Prophase. Dr. Monaca has nothing to disclose. Dr. Dauvilliers has received personal compensation for activities with UCB Pharma as a consultant. Dr. Hogl has nothing to disclose. Dr. Montplaisir has received personal compensation has received personal compensation for activities with Sanofi-Aventis, Servier, Merck & Co., Inc., Jazz Pharmaceutical, Valeant Pharmaceuitcal, and Impax Laboratories as a consultant and with Merck & co., Dr. Dion has nothing to disclose. Dr. Rouleau has nothing to disclose.Monday, April 18 2016, 6:30 am-8:30 am %U