% 0期刊文章%一个阿德里亚诺亚蔡%安德里亚·卡尔沃%克里斯蒂娜Moglia %一个安东尼奥Canosa %凯碧Restagno %莫拉Brunetti %一个阿米莉亚孔蒂马可barberi % %一个朱塞佩Marangi称% Serena Lattante %玛塞拉Zollino %一个卢西亚拉马里奥Sabatelli % % Gabriele Mora %莱蒂齐亚马志尼%桑德拉·D 'Alfonso % T ATXN2 PolyQ中间重复修改ALS表型和生存(I8-3B) % D J神经病学2015% % P I8-3B % V 84% N % X 14补充目标。首页分析的频率和临床特点ALS患者中间长度(CAG)扩张(编码即谷氨酰胺,polyQ)在以人群为基础的队列的意大利ATXN2基因病人(发现队列特区),和连续复制一个独立队列的结果从一个ALS患者三级中心(验证队列,VC)。背景。ATXN2 polyQ中间重复已报告代表ALS的危险因素。没有执行研究它们对表型的影响。设计/方法。直流包含在2007 - 2012年672例事件在皮埃蒙特和瓦莱达奥斯塔地区,意大利;509年控制神经健康主题,研究地区的居民,年龄——准确性情况。VC中包括661名ALS患者连续见过2001年和2013年之间在ALS诊所的中心在罗马天主教大学,意大利。结果。 In the DC the frequency of 蠅31 polyQ ATNX2 repeats was significantly more common in ALS cases (19 patients vs. 1 control, p=0.0001; odds ratio 14.8, 95[percnt] c.i., 1.9-110.8). Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (median survival 1.8 years, interquartile range [IQR] 1.3-2.2 vs. 2.7 years, IQR 1.6-5.1) (p=0.001), and an increase frequency of spinal onset. 蠅31 polyQ ATNX2 repeats remained independently significant in multivariable analysis. In the VC, patients with 蠅31polyQ repeats have a shorter survival than those with <31 repeats (median survival, polyQ 蠅31, 2.0 years, IQR 1.5-3.4; polyQ <31, 3.2 years, IQR 2.0-6.4; p=0.007). Conclusions. ATXN2 polyQ intermediate repeat is a modifier of ALS survival and phenotype. Disease-modifying therapies targeted to ATXN2 represent a promising therapeutic approach for ALS. Study supported by Ministero della Salute (grant RF-2010-2309849), European Community’s Health Seventh Framework Programme (grant agreement 259867), ARISLA (RepeatALS project).Disclosure: No Dr. Calvo has nothing to disclose. Dr. Moglia has nothing to disclose. Dr. Canosa has nothing to disclose. Dr. Restagno has nothing to disclose. Dr. Brunetti has nothing to disclose. Dr. Barberis has nothing to disclose. Dr. Conte has nothing to disclose. Dr. Marangi has nothing to disclose. Dr. Lattante has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Sabatelli has nothing to disclose. Dr. Corrado has nothing to disclose. Dr. Mora has nothing to disclose. Dr. Mazzini has nothing to disclose. Dr. D'Alfonso has nothing to disclose.Tuesday, April 21 2015, 1:00 pm-5:00 pm %U