@article {Lattante66作者={塞雷娜Lattante阿米莉亚孔蒂和玛塞拉Zollino马可Luigetti和亚历山德拉·德尔·格兰德朱塞佩Marangi称安吉拉Romano和亚历山德罗Marcaccio和莉亚娜Meleo会Bisogni和保罗·玛丽亚·罗西尼和马里奥Sabatelli}, title ={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},体积={79}={1},页面= {66 - 72}= {2012},doi = {10.1212 / WNL。出版商0 b013e31825dceca} = {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的: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)基因群体的首页零星的病人和基因型{\ textendash}表型的相关性。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,通过分别评价基因型{\ textendash}在单个基因表型的相关性,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{\textregistered} 2012;79:66{\textendash}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}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/79/1/66}, eprint = {//www.ez-admanager.com/content/79/1/66.full.pdf}, journal = {Neurology} }