TY - T1的临床特点的脊髓小脑的共济失调1,2,3,6 (S12.002) JF -神经学乔-神经病学SP - S12.002 LP - S12.002六世- 78 - 1补充AU - T首页etsuo Ashizawa AU -苏珊帕尔曼盟克里斯托弗·戈麦斯盟盟——乔治·威尔莫特-杰里米Schmahmann盟莎拉应盟特蕾莎Zesiewicz AU -保尔森盟Vikram Shakkottai Bushara盟盟——Khalaf) -彼得罗玛盟Sheng-Han郭盟Stefan Pulst AU -卡拉菲格罗亚盟Guangbin夏盟Jeffrey Krischer AU -大卫Cuthbertson盟艾米罗伯茨Holbert AU -约翰·弗格森AU -温迪Galpern盟- s Subramony Y1 - 2012/04/24 UR - //www.ez-admanager.com/content/78/1_Supplement/S12.002.abstract N2 -目的:临床特点表现的脊髓小脑的共济失调类型1、2、3和6 (SCA1、2、3和6)和自然历史在美国人口。背景SCA1、2、3和6是四个最常见的常染色体显性遗传小脑性共济失调,造成所有扩大polyglutamine-coding CAG重复。这些疾病的致病机制越来越清晰,设计良好的临床试验可能需要在不久的将来。设计/方法:协调纵向多中心研究的临床特征与协议一致的欧洲联盟研究(神经病学77:1035 2011;1041),使用量表评估和评级共济失调(SARA)作为主要结果指标,跟进每6个月。首页结果:从289年最初的横截面数据的访问病人(n = 49, 58、112年和68年SCA1, 2、3和6)进入13我们中心,意味着莎拉总分为15.6(分别为14.5,18.1,15.4和14.6),和莎拉的年度增长分数估计从当前莎拉分数和疾病持续时间(平均值±标准错误)为0.99±0.025(1.21±0.065,0.97±0.053,1.05±0.039,0.99±0.043,分别),分别。莎拉的变化分数(均值±标准差)在最初的6个月(n = 166)为0.34±2.72 (1.09±2.37 n = 28日;0.05±2.73 n = 25日;n = 43岁,0.59±2.60和n = 27日分别为-0.27±3.03)。SCA6受试者明显后发病,SCA2主题显示上半身共济失调比剩下的sca研究主题。结论:SCA3的比例和SCA6科目在美国比在欧洲更大财团的研究。虽然我们需要进一步纵向数据来确定精确的莎拉得分变化,我们的初步数据显示,这一趋势SCA1进展速度比SCA2、3和6。后来出现在SCA6和更大的上半身共济失调在SCA2指出。支持:NIH (RC1NS068897)。Disclosure: Dr. Ashizawa has nothing to disclose. Dr. Perlman has received research support from Santhera Pharmaceuticals. Dr. Gomez has nothing to disclose. Dr. Wilmot has nothing to disclose. Dr. Schmahmann has nothing to disclose. Dr. Ying has nothing to disclose. Dr. Zesiewicz has received personal compensation for activities with Teva Pharmaceuticals as a speaker. Dr. Zesiewicz has received research support from Bobby Allison Ataxia Research Center, National Ataxia Foundation, Astellas Pharmaceuticals, Pfizer, Friedreich's Ataxia Research Alliance, Takeda, Biovail Corporation, Southern Illinois University, and Allon Pharmaceuticals. Dr. Paulson has received personal compensation for activities with Shire. Dr. Paulson has received research support from Shire. Dr. Shakkottai has nothing to disclose. Dr. Bushara has nothing to disclose. Dr. Mazzoni has nothing to disclose. Dr. Kuo has nothing to disclose. Dr. Pulst has received personal compensation for activities with Athena Diagnostics. Dr. Figueroa has nothing to disclose. Dr. Xia has nothing to disclose. Dr. Krischer has nothing to disclose. Dr. Cuthbertson has nothing to disclose. Dr. Roberts Holbert has nothing to disclose. Dr. Ferguson has nothing to disclose. Dr. Galpern has nothing to disclose. Dr. Subramony has received personal compensation for activities with Athena Diagnostics. Dr. Subramony has received personal compensation in an editorial capacity for the Handbook of Clinical Neurology. Tuesday, April 24 2012, 15:00 pm-16:30 pm ER -