TY -的T1临死前的特征的家族携带非编码GGGGCC Hexanucleotide重复扩张< em > C9ORF72 < / em > (in9 - 1.009)摩根富林明-神经学乔-神经病学SP - in9 1.009 - 1.009 LP - in9六世- 78 - 1补充AU -船只埃德里非盟-布拉德首页利Boeve盟玛丽DeJesus-Hernandez AU -马修·贝克AU -尼古拉·卢瑟福盟David Knopman AU -罗伯特Ivnik盟盟朱莉字段——罗纳德·彼得森盟——罗莎说Rademakers Y1 - 2012/04/26 UR - //www.ez-admanager.com/content/78/1_Supplement/IN9-1.009.abstract N2 -目的:描述一个家族与家族性额颞叶痴呆(FTD)和/或肌萎缩性脊髓侧索硬化症(ALS)由于扩大非编码GGGGCC Hexanucleotide C9ORF72重复的基因。背景的非编码GGGGCC hexanucleotide重复基因C9ORF72最近被发现在一些家庭成员家族额颞叶痴呆和/或肌萎缩性脊髓侧索硬化症(c9FTD / ALS)。临死前的临床和遗传特征与c9FTD / ALS没有描述。设计/方法:我们描述了临床神经心理学‚‚继承和成像特点的家族c9FTD /肌萎缩性侧索硬化症。结果:德国血统的家族是c9FTD / ALS影响6个人3代‚三个人检查和两个后来被发现C9ORF72的突变。症状出现在所有受影响的成员的平均年龄50岁(范围35到69岁)。生存中值为8年(5到17年)。临床表型包括行为变异FTD (n = 4)‚FTD /肌萎缩性侧索硬化症(n = 1)‚和帕金森症(n = 1)。假定专性的载体突变仍无症状到他去世,享年72岁。3所有成员检查在我们的机构开发早期著名的行为和性格的变化在他们的疾病。一般的神经学检查是正常的在所有3个人早期初步评估的时候没有任何震颤麻痹或运动神经元疾病的迹象。 Neuropsychological testing in 2 showed impairment on tests of attention and executive functioning with milder impairment in learning and verbal memory. All three had bilateral frontal atrophy on neuroimaging.Conclusions: These findings in this kindred suggest an autosomal dominant disorder with incomplete penetrance and variable phenotypic expression. Potential genetic and environmental modifying factors that could influence the phenotypic presentation will require further study.Supported by: Grants AG016574‚ AG006786‚ the ALS Association‚ and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer's Disease Research Program of the Mayo Foundation.Disclosure: Dr. Adeli has nothing to disclose. Dr. Boeve has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Knopman has received personal compensation for activities with Lilly Pharmaceuticals as a data safety monitoring board member. Dr. Knopman has received personal compensation in an editorial capacity for Neurology. Dr. Knopman has received research support from Elan, Forest, and Baxter. Dr. Ivnik has nothing to disclose. Dr. Fields has received personal compensation for activities with Medtronic, Inc., as a consultant. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., Janssen Alzheimer's Immunotherapy, Elan Pharmaceuticals, and GE Healthcare. Dr. Rademakers has nothing to disclose.Thursday, April 26 2012, 13:00 pm-17:00 pm ER -