% 0期刊文章% Serena Lattante %一个阿米莉亚孔蒂%玛赛拉Zollino %马可Luigetti %一个朱塞佩Marangi称亚历山德拉·德尔·格兰德% %安吉拉Romano %一个亚历桑德罗·Marcaccio %莉亚娜Meleo %会Bisogni %一个马里奥Sabatelli保罗·玛丽亚·罗西尼% % T的贡献主要肌萎缩性脊髓侧索硬化症基因零星的疾病的病因% D R 10.1212 / WNL 2012%。0 b013e31825dceca % 首页J神经病学% P 66 - 72 X % V 79% N 1%目标:量化的整体贡献目前已知突变肌萎缩性脊髓侧索硬化症(ALS)基因群体的零星的病人和genotype-phenotype相关性。方法:筛查SOD1 TARDBP,付家,ANG, ATXN2, OPTN, C9ORF72连续在480年进行了零星的ALS患者(SALS)和在48家族性肌萎缩性侧索硬化症(歧视)指数一个意大利转诊中心的病人。结果:基因突变检测53例,11日的累积频率。七人小说。最高的频率的阳性病例得到TARDBP (2.7%)、C9ORF72(2.5%),和SOD1 (2.1%)。整个群突变患者没有突变的区别是没有观察到显著差异关于年龄和网站的出现,临床表型频率和生存。然而,通过在单个基因分别评估genotype-phenotype相关性,临床观察不同基因之间的差异。疾病持续时间明显缩短患者窝藏C9ORF72扩张和不再SOD1组。高频率的主要上运动神经元表型观察患者TARDBP突变。两个病人,1和C9ORF72 SOD1突变,并发和突变。 Mutations were detected in 43.7% of patients with FALS. Conclusions: A considerable proportion of patients with SALS harbored mutations in major ALS genes. This result has relevant implications in clinical practice, namely in genetic counseling. The detection of double mutations in 2 patients raises the hypothesis that multiple mutations model may explain genetic architecture of SALS. Neurology® 2012;79:66–72 ALS=amyotrophic lateral sclerosis; CI=confidence interval; FALS=familial ALS; FTD=frontotemporal dementia; JALS=juvenile ALS; LMN=lower motor neuron; SALS=sporadic ALS; SCA2=spinocerebellar ataxia type 2; UMN-D=upper motor neuron dominant %U //www.ez-admanager.com/content/neurology/79/1/66.full.pdf

map