TY - T1的样本量估计未来治疗试验sca (S12.004) JF -神经学乔-神经病学SP - S12.004 LP - S12.004六世- 78 - 1补充查尔斯珀赖因非盟首页-苏菲Tezenas Du Montcel盟盟-西里尔Goizet盟塞西莉亚的公司AU -马蒂厄Anheim盟露西Guyant-Marchal AU -爱丽丝勒巴戎寺盟Nadia Vandenberghe AU -玛雅Tchikviladze AU -大卫•狄维士盟伊莎贝尔Le误码率盟Karine N 'Guyen AU -塞西尔Cazeneuve AU -尚塔尔Tallaksen AU - Alexis布赖斯盟-亚历山德拉·杜尔Y1 - 2012/04/24 UR - //www.ez-admanager.com/content/78/1_Supplement/S12.004.abstract N2 -目的:评估疾病进展并确定临床治疗试验工具的有效性在一群主导共济失调。常染色体显性遗传背景小脑共济失调(sca)异构涉及30多个位点的基因。小脑变性伴随着脑干的变化、基底神经节、大脑皮质、脊髓和周围神经系统。与sca设计/方法:162例,包括sca受到多麸醯胺酸与扩张(35 25 SCA1、SCA2 58 SCA3 5 SCA6, 10 SCA7)和其他sca (1 SCA5, 1 SCA14 2 SCA21 1 SCA25 2 SCA28 22未知基因型)随访3年的前瞻性国家法国转诊网络包括7中心。结果测量是定量综合与写作(CCFSw)和小脑功能评分量表评估和评级的共济失调(SARA)。结果:患者的疾病恶化SCA1, 2、3 SCA6患者的基因突变,并保持稳定,SCA7或其他SCA突变CCFSw和莎拉。CCFSw进展更快SCA3帕金森症和/或肌张力障碍患者在基线(p = .003),而莎拉SCA2患者进展取决于性别、发病年龄、包容、正常SCA2等位基因的重复次数,和后一列功能障碍。手臂试验结果与莎拉测量需要57 SCA2、70 SCA1,每组75 SCA3病人检测疾病进展减少50%(0.05 80%,α)。结论:疾病进展速度受到多麸醯胺酸在sca扩张SCA1,比其他组2和3。这两个结果措施适用于治疗性试验;莎拉需要更少的患者达到同样的权力,但CCFSw需要更少的分层。我们证明临床结果的选择测量可靠的评估是至关重要的神经退行性疾病的进展。杜博士披露:Tezenas Montcel没有披露。 Dr. Charles Ignatiew has nothing to disclose. Dr. Goizet has received research support from Genzyme Corporation. Dr. Marelli has nothing to disclose. Dr. Anheim has nothing to disclose. Dr. Guyant-Marchal has nothing to disclose. Dr. Le Bayon has nothing to disclose. Dr. Vandenberghe has nothing to disclose. Dr. Tchikviladze has nothing to disclose. Dr. Devos has received personal compensation for activities with Novartis and Aguettant. Dr. Le Ber has nothing to disclose. Dr. N'Guyen has nothing to disclose. Dr. Cazeneuve has nothing to disclose. Dr. Tallaksen has nothing to disclose. Dr. Brice has nothing to disclose. Dr. Durr has nothing to disclose. Tuesday, April 24 2012, 15:00 pm-16:30 pm ER -