RT期刊文章SR电子T1的遗传流行病学在ALS C9ORF72:国家神经学神经学研究在意大利(P7.005)摩根富林明乔FD Lippincott Williams &威尔金斯SP P7.005 VO 82是10补充A1阿德里亚首页诺亚蔡A1普Battistini A1安德里亚·卡尔沃A1克劳迪娅Caponnetto A1弗朗西斯卡Conforti A1马西莫Corbo A1法比奥Giannini A1杰西卡Mandrioli A1 Fabrizio Salvi A1 Gabriele莫拉A1马里奥Sabatelli A1 Vincenzo La贝拉A1吉安卡洛Logroscino A1伊莎贝拉西蒙A1玛丽亚Monsurro A1莱蒂齐亚马志尼A1朱塞佩Borghero A1 Francesco Logullo A1基督教Lunetta A1保罗Volanti A1莫拉Pugliatti A1 Paola Mandich A1桑德拉·D 'Alfonso A1西尔瓦娜Penco A1玛塞拉Zollino A1玛丽亚Murru A1加布里埃尔Restagno年2014 UL //www.ez-admanager.com/content/82/10_Supplement/P7.005.abstract AB背景。GGGGCC hexanucleotide重复扩张C9ORF72第一内含子的基因代表白人血统的ALS患者最常见的突变。欧洲C9ORF72突变的频率有南北梯度下降。的目标。评估频率和临床特点C9ORF72突变意大利大陆和狭隘。方法。所有16个意大利ALS ALS患者中心检测C9ORF72, SOD1,付家,TARDBP突变。病人的地理起源已经决定通过一个详细的评估他们的谱系。结果。共有3868名ALS患者中,268 (6.9%)C9ORF72突变,其中50%有阳性家族史对肌萎缩性侧索硬化症或额颞叶痴呆。 The mean age at onset of patients with C9ORF72 mutation was 58.3 (SD 9.4) years, lower than that of cases not carrying the mutation (61.1, SD 12.7) (p=0.0001). No difference in the mean age at onset was found in C9ORF72 patients with positive or negative family history or with bulbar or spinal onset. The frequency of mutations was similar in continental Italy as well in Sicily, while it was significantly higher in Sardinia (12.8% of cases). However, a cluster of C9ORF72 mutations (12.7% of all cases) has been found also in Basilicata, a relatively isolated region of southern Italy, completely surrounded by the Apennines and with only small tracts of coastline. No clinical differences (age and site of onset, cognitive impairment, survival) were found between patients with different regional ancestry. These patients carry a common risk haplotype confirming a founder effect. Conclusions. The frequency of C9ORF72 mutations in Italy is lower than that reported in northern Europe. We fund no clear north-to-south pattern of frequency of C9ORF72 frequency in Italy, with the remarkable exception of two geographical isolates, Sardinia and Basilicata. Regional ancestry do not influence the phenotype of C9ORF72 ALS. Study Supported by: Health Seventh Framework Programme (No 259867); Italian Ministry of Health (RF-2010-2309849)Disclosure: Dr. Battistini has nothing to disclose. Dr. Calvo has nothing to disclose. Dr. Caponnetto has nothing to disclose. Dr. Conforti has nothing to disclose. Dr. Corbo has nothing to disclose. Dr. Giannini has nothing to disclose. Dr. Mandrioli has nothing to disclose. Dr. Salvi has received research support from the Fondazione Hilarescere. Dr. Mora has nothing to disclose. Dr. Sabatelli has nothing to disclose. Dr. La Bella has nothing to disclose. Dr. Logroscino has received personal compensation for activities with Novartis, GlaxoSmithKline Inc., and Boerhinger Ingelheim Pharmaceuticals, Inc. Dr. Simone has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals Inc., and Biogen Idec. Dr. Monsurrò has nothing to disclose. Dr. Mazzini has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Logullo has nothing to disclose. Dr. Lunetta has nothing to disclose. Dr. Volanti has nothing to disclose. Dr. Pugliatti has nothing to disclose. Dr. Mandich has nothing to disclose. Dr. D'Alfonso has nothing to disclose. Dr. Penco has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Murru has nothing to disclose. Dr. Restagno has nothing to disclose.Thursday, May 1 2014, 3:00 pm-6:30 pm