TY - T1的表征的神经精神功能与变异< em > C9ORF72‚< / em > < em > MAPT < / em >和< em > PGRN < / em > (P05.065) JF -神经学乔-神经病学SP - P05.065 LP - P05.065六世- 78 - 1补充AU -船只埃德里Yona首页s Geda AU - AU -布拉德利Boeve AU -尼尔Graff-Radford AU -玛丽DeJesus-Hernandez盟David Knopman AU -基思·约瑟夫盟盟奥托佩德拉泽-贝斯拉什盟盟朱莉字段——尼古拉·卢瑟福盟-马修·贝克AU -格伦·史密斯AU -罗伯特Ivnik AU -弗农Pankratz说道盟罗莎说Rademakers AU -罗纳德·彼得森Y1 - 2012/04/25 UR - //www.ez-admanager.com/content/78/1_Supplement/P05.065.abstract N2 -目的:描述家族额颞叶痴呆患者的神经功能(FTD)±肌萎缩性脊髓侧索硬化症(ALS)被发现携带GGGGCC hexanucleotide重复在C9ORF72‚并确定是否有一个特定的行为概要文件特定于这种突变的患者相比其他已知的突变。背景零星FTD患者被发现有更多去抑制‚兴奋‚冷漠‚和异常运动行为比阿尔茨海默氏症患者。几乎没有数据与突变相关的神经精神症状C9ORF72‚microtubule-associated tau蛋白(MAPT)和progranulin (PGRN)。设计/方法:所有受试者中梅奥阿尔茨海默病研究中心(ADRC)突变C9ORF72‚MAPT‚和PGRN被确定。收集的数据在注册使用神经精神病学的库存(NPI)或神经库存调查问卷(NPI-Q)‚关注神经的频率域分析报告为礼物。神经精神病学的概要文件被比较了。结果:20科目与NPI的C9ORF72突变数据被确定。都有至少1神经精神功能的初步评估。冷漠的频率最高(90%)(60%)‚‚胃口变化,去抑制(50%)‚而6域频率≤30%。那些突变MAPT (n = 27)‚最常报道领域去抑制(67%)(59%)‚‚冷漠和食欲改变(57%)。冷漠(65%)(47%)‚‚焦虑和过度运动活动频率最高(47%)曾报道过那些PGRN突变(n = 17)。结论:神经精神障碍患者是普遍在C9ORF72突变。突变的神经精神表现的异同与C9ORF72‚MAPT‚或PGRN‚显示重叠以及不同网络参与mutation-associated退化。支持:授予AG016574‚AG006786‚ALS协会,史密斯和罗伯特·h·克拉丽斯和阿比盖尔范布伦阿尔茨海默病梅奥基金会的研究项目。披露:博士埃德里没有披露。 Dr. Geda has nothing to disclose. Dr. Boeve has nothing to disclose. Dr. Graff-Radford has received personal compensation for activities with Codman as a participant on a scientific advisory board. Dr. Graff-Radford has received personal compensation in an editorial capacity for the Neurologist. Dr. Graff-Radford has received research support from Janssen Pharmaceuticals, Inc., Pfizer Inc, Medivation, Inc., Forrest Laboratories and Allon Therapeutics Inc. Dr. DeJesus-Hernandez 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. Josephs has nothing to disclose. Dr. Pedraza has nothing to disclose. Dr. Rush has nothing to disclose. Dr. Fields has received personal compensation for activities with Medtronic, Inc., as a consultant. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Smith has nothing to disclose. Dr. Ivnik has nothing to disclose. Dr. Pankratz has received research support from Abbott Laboratories, Inc. Dr. Rademakers has nothing to disclose. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., Janssen Alzheimer's Immunotherapy, Elan Pharmaceuticals, and GE Healthcare. Wednesday, April 25 2012, 14:00 pm-19:00 pm ER -