文摘
目的:我们研究了GBA突变是否与REM睡眠行为障碍(RBD)和RBD-associated帕金森病(PD)。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.
披露:Gan-Or博士没有披露。迪普雷博士没有披露。Postuma博士已经收到个人活动与罗氏诊断公司补偿和Biotie疗法。LeBlond博士没有披露。Mirelman博士没有披露。Orr-Urtreger博士没有披露。Giladi博士已经收到个人活动与Teva-Lundbeck补偿,梅尔兹Inc .)的联合,英特制药,NeuroDerm Inc .阿努尔夫博士接到Bioprojet研究支持。Desautels博士没有披露。盖格农博士没有披露。Frauscher博士已经收到个人补偿活动与辉瑞制药(pfe . n:行情)作为顾问。 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.
2016年4月18日星期一,6:30 am-8:30
- 版权©2016年长企业公司,。
