RT期刊文章SR电子T1 C9ORF72一系列大型的意大利和撒丁岛人家族和零星的ALS患者(in9 - 1.003)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP in9 - OP in9 1.003 - 1.003 VO 78是1补首页充A1阿德里亚诺亚蔡A1朱塞佩Borghero A1马里奥Sabatelli A1马西莫Corbo A1 Gabriele莫拉A1法比奥Giannini A1弗朗西斯卡Conforti A1西尔瓦娜Penco A1安德里亚·卡尔沃A1莫拉Pugliatti A1亚历山德拉Sotgiu A1吉安卡洛Logroscino A1布莱恩Traynor A1 Alan Renton A1 Elisa Majounie A1朱塞佩Lauria A1克劳迪娅Caponnetto A1杰西卡Mandrioli A1 Fabrizio Salvi A1保罗Volanti A1 Vincenzo La贝拉A1玛丽亚Monsurro A1玛塞拉Zollino A1艾琳Ossola A1莫拉Brunetti A1加布里埃尔Restagno年2012 UL //www.ez-admanager.com/content/78/1_Supplement/IN9-1.003.abstract AB目的:评估的频率和一个大型系列的表型意大利sALS和歧视C9ORF72重复扩张。背景最近我们发现大扩张hexanucleotide重复(GGGGCC) C9ORF72第一内含子的基因位于染色体9 p21,有关家族性和零星的ALS病例(兰等,2011)。设计/方法:我们评估了126指数歧视(撒丁岛人的106意大利人,20)和601个sALS(116年485年意大利撒丁岛人),不利于其他ALS-related基因突变。患者通过ITALSGEN财团收集。重复引物PCR筛选的存在hexanucleotide扩张的第一内含子C9ORF72已经执行。控制353神经健康受试者的意大利血统和96年的撒丁岛人血统。结果:在控制,重复的数量是25岁以下(范围0-23)。在意大利16 sALS(3.3%)和42(39.6%)增加C9ORF72基因重复。在撒丁岛人9 sALS(7.8%)和11歧视(55.5%)增加C9ORF72基因重复。在意大利,北向南递减的梯度C9ORF72 hexanucleotide重复扩张被发现。相比,患者没有重复,受试者重复扩张有较高频率的额颞叶痴呆(FTD) (p = 0.0001)。倾向一个期待被发现,发病年龄与更大的期待,如果传输父母是母亲。外显率为63% (95% CI, 56 - 69%)在70年,81%在80年(75 - 87%)。 The penetrance was significantly higher in men (70% at 70 years) than in women (54% at 70 years)(p=0.03).Conclusions: Th expansions of the C9ORF72 gene are the most common genetic mutation in Italian sALS and fALS and are particularly frequent in subjects of Sardinian ancestry. The complexity of the phenotype of pedigrees related to this mutation, which include cases with ALS, ALS-FTD and FTD, challenge the current notion of familial ALS.Disclosure: Dr. Chio has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Sabatelli has nothing to disclose. Dr. Corbo has nothing to disclose. Dr. Mora has nothing to disclose. Dr. Giannini has nothing to disclose. Dr. Conforti has nothing to disclose. Dr. Penco has nothing to disclose. Dr. Calvo has nothing to disclose. Dr. Pugliatti has nothing to disclose. Dr. Sotgiu has nothing to disclose. Dr. Logroscino has received personal compensation for activities with Novartis, Glaxo and Boerhinger. Dr. Traynor has received personal compensation in an editorial capacity for the journal Neurology. Dr. Renton has nothing to disclose. Dr. Majounie has nothing to disclose. Dr. Lauria has nothing to disclose. Dr. Caponnetto has nothing to disclose. Dr. Mandrioli has nothing to disclose. Dr. Salvi has received research support from Fondazione Hilarescere. Dr. Volanti has nothing to disclose. Dr. La Bella has nothing to disclose. Dr. Monsurrò has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Ossola has nothing to disclose. Dr. Brunetti has nothing to disclose. Dr. Restagno has nothing to disclose. Thursday, April 26 2012, 13:00 pm-17:00 pm