RT期刊文章SR电子T1运动障碍常染色体显性脊髓小脑的共济失调:NIH前瞻性多中心队列研究(S43.001)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP S43.001 OP S43.001 VO 80是7补充A1马里亚纳Moscovich A1迈克尔·奥肯A1克里斯Fav首页illa A1卡拉菲格罗亚A1 Stefan Pulst A1苏珊帕尔曼A1乔治·威尔莫特A1克里斯托弗·戈麦斯A1 Jeremy Schmahmann A1莎拉应A1保尔森A1 Vikram Shakkottai A1 Bushara A1夫特蕾莎Zesiewicz A1 Sheng-Han郭A1丽贝卡比尤利A1 Guangbin夏A1 Tetsuo Ashizawa A1 Subramony年2013 UL //www.ez-admanager.com/content/80/7_Supplement/S43.001.abstract AB目的:前瞻性描述extra-cerebellar运动障碍的类型和他们的决定因素在一个大的脊髓小脑的共济失调(SCA)科目。背景:SCA是一个基因,临床和病理异质群体通常涉及小脑的神经退行性疾病和extra-cerebellar结构。各种运动障碍(MD)的发生与一些SCA的频率及其特征和治疗会影响结果。设计/方法:我们前瞻性地收集患者的数据SCA 1、2、3和6从12中心在美国(临床研究财团脊髓小脑的共济失调/ CRC-SCA)。病人特点,神经评级(SARA)和功能状态进行评估。肌张力障碍患病率、舞蹈病、刚性,姿势震颤、休息震颤,肌阵挛和潜在的因素进行了分析。负责任的规模在扩大等位基因CAG重复测定。结果:共有301名患者,包括52 SCA 1, 64 SCA 117 SCA和68年SCA 6患者检查。四十%(119)有一个或多个SCA相关医学博士的(刚性,震颤、肌阵挛、舞蹈病、肌张力障碍)。姿势震颤是最频繁的MD(不同的SCA的2 31%)其次是刚性和肌张力障碍。观察的组合刚度和地震在SCA 2中,SCA 3和SCA 6(6到12%的情况下),但不是在SCA 1。 Chorea was most frequent in SCA 2 and dystonia, in SCA 2 and 3. MD's were in general associated with more severe disease measures; and in SCA 3 age at onset, disease duration and repeat size.CONCLUSIONS: Movement disorders are quite prevalent in SCA's; postural tremor was most frequent followed by dystonia and rigidity. They often occur with more severe disease and may contribute to disability. Their recognition may facilitate genotypic diagnosis and allow symptomatic therapy. Factors determining their presence need better definition.Supported by: NIH/NINDS: 1RC1NS068897-01 (ARRA).Disclosure: Dr. Moscovich has nothing to disclose. Dr. Okun has received personal compensation for activities with the National Parkinson Foundation and Ask the Expert. Dr. Okun has received royalty payments from Demos, Humana, and Cambridge. Dr. Okun has received research support from the Michael J. Fox Foundation, the National Parkinson Foundation, the Parkinson Alliance, the Smallwood Foundation, and the National Institutes of Health. Dr. Favilla has nothing to disclose. Dr. Figueroa has nothing to disclose. Dr. Pulst has received personal compensation for activities with Athena Diagnostics. Dr. Pulst has received license or royalty payments from Cedars-Sinai Medical Center. Dr. Perlman has received research support from Santhera Pharmaceuticals. Dr. Wilmot has nothing to disclose. Dr. Gomez has nothing to disclose. Dr. Schmahmann has nothing to disclose. Dr. Ying has nothing to disclose. Dr. Paulson has received personal compensation for activities with Shire. Dr. Paulson has received license fee payments from Sirna Therapeutics. Dr. Paulson has received research support from Shire. Dr. Shakkottai has nothing to disclose. Dr. Bushara has nothing to disclose. Dr. Zesiewicz has received personal compensation for activities with Teva Neuroscience, GE, ProCE, and UCB Pharma as a speaker. Dr. Zesiewicz has received research support from Friedreich's Ataxia Research Alliance, Allon Pharmaceuticals, GlaxoSmithKline, Inc. and UCB Pharma. Dr. Zesiewicz has received research support from Friedreich's Ataxia Research Alliance. Dr. Kuo has nothing to disclose. Dr. Beaulieu has nothing to disclose. Dr. Xia has nothing to disclose. Dr. Ashizawa has received royalty payments from Baylor College of Medicine. Dr. Subramony has received personal compensation for activities with Athena as speaker.Thursday, March 21 2013, 12:00 pm-2:00 pm