TY - T1的运动障碍在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) JF -神经学乔-神经病学SP - S43.001 LP - S43.001六世- 80 - 7补充非盟-马里亚纳Moscovich AU -迈克尔·奥肯盟-克里斯Favil首页la Stefan Pulst AU -卡拉菲格罗亚盟盟-苏珊帕尔曼盟盟乔治·威尔莫特-克里斯托弗·戈麦斯AU -杰里米Schmahmann盟莎拉应非盟-保尔森盟Vikram Shakkottai Bushara盟盟——Khalaf) -特蕾莎Zesiewicz盟Sheng-Han郭AU -丽贝卡·比尤利盟Guangbin夏盟- Tetsuo Ashizawa盟美国Subramony Y1 - 2013/02/12 UR - //www.ez-admanager.com/content/80/7_Supplement/S43.001.abstract N2 -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 ER -