% 0期刊文章%一个凯瑟琳离开者%琼Miravite %马蹄莲Dilli %一个布丽安娜Sa %一个罗伯特·A·奥尔特加%艾琳·莫兰%布莱恩·h·Kopell %迈克尔·奥肯%凯利富特%一个维基夏克尔%一个瑞秋Saunders-Pullman苏珊Bressman % % T体内基因LRRK2的纵向结果基因突变帕金森症接受丘脑核(STN)或苍白球内肌(GPi)深部脑刺激(DBS):多群比较(p1.8 - 029) % D J神经病学2019% % P p1.8 - 029 V % 92% N % X 15补充目的:改善我们了解体内基因LRRK2的DBS G2019S突变携带者。首页背景:对于体内基因LRRK2 DBS在PD是有限的数据,也没有公布的数据比较体内基因LRRK2 STN-DBS GPi-DBS为突变携带者。设计/方法:图表回顾临床,电动机和神经功能进行体内基因LRRK2 40 G2019S突变PD(有或没有DBS)和15 non-LRRK2 PD DBS西奈山贝斯以色列遗传学研究的一部分。GBA突变携带者被排除在外。体内基因LRRK2结果:DBS体内基因LRRK2发病的年龄年轻患者明显比没有DBS PD,(50.11年(范围26 - 70)和63.72年(范围44 - 85);p = 0.006),更有可能是男性(77.8% vs 18.7%;p = 0.002)。体内基因LRRK2在PD, 4例病人接受了GPi-DBS和5例接受了STN-DBS。有一个更大的减少基线两年左旋多巴相等剂量(LED) STN-DBS vs GPi-DBS (46% vs−1%, p = 0.02)。然而,电动机的得分没有差别或神经心理测试。LRRK2 DBS没有不同于iPD DBS在发病的年龄和诊断、性别、疾病持续时间、运动成绩在手术或药物使用。 The average time to diagnosis was greater in LRRK2 DBS (0.67 years vs 1.67 years; p=0.03). LRRK2 PD DBS had a greater reduction in motor score than iPD DBS from baseline to two-year follow-up (69% vs. −11%; p=0.02). There was no difference in LED or neuropsychological tests.Conclusions: LRRK2 PD DBS are more likely male and have a younger age of onset than non-DBS LRRK2 PD. Both LRRK2 STN-DBS and GPi-DBS lead to reductions in motor scores, although STN-DBS may provide a greater reduction in LED. LRRK2 mutation carriers maintain a robust response to DBS at two-year follow-up. More data are needed as genotyping may be a consideration when identifying optimal patient and target for DBS.Disclosure: Dr. Leaver has nothing to disclose. Dr. Miravite has nothing to disclose. Dr. Dilli has nothing to disclose. Dr. Sa has nothing to disclose. Dr. Ortega has nothing to disclose. Dr. Moran has nothing to disclose. Dr. Kopell has nothing to disclose. Dr. Okun has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Parkinson’s Foundation, Medscape, Mededicus, AAN, PeerView, Prime, Henry Stewart, and MDS. Dr. Okun has received personal compensation in an editorial capacity for New England Journal of Medicine Journal Watch and JAMA Neurology. Dr. Foote has nothing to disclose. Dr. Shanker has nothing to disclose. Dr. Bressman has nothing to disclose. Dr. Saunders-Pullman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Denali Therapeutics. Dr. Saunders-Pullman has received research support from Genzyme-Sanofi (Gaucher Generations Program). %U