TY - T1的微分效应的< em > C9ORF72 < / em > Hexanucleotide重复在bvFTD大脑形态和FTD-ALS (in9 - 2.005)摩根富林明-神经学乔-神经病学SP - in9 2.005 - 2.005 LP - in9六世- 78 -首页 1补充AU -珍妮弗Yokoyama AU -高田曼扎诺盟沙龙沙非盟-安娜Karydas盟大汗AU -杰米方盟玛丽DeJesus-Hernandez盟——尼古拉·卢瑟福盟——马修·贝克AU -罗莎说Rademakers盟乔凡尼·科波拉AU -威廉·斯利非盟-亚当拳击手AU -布鲁斯·米勒AU -凯瑟琳·兰金Y1 - 2012/04/26 UR - //www.ez-admanager.com/content/78/1_Supplement/IN9-2.005.abstract N2 -目的:识别C9ORF72重复变异对脑萎缩的影响模式行为变异的额颞叶痴呆(bvFTD)和FTD-amyotrophic侧索硬化症(ALS)。非编码区域的背景GGGGCC重复C9ORF72最近被发现是一个主要因素遗传风险的FTD和ALS家族和散在病例。是否C9变异赋予特定的形态特征退化与bvFTD / FTD-ALS是未知的。设计/方法:四百一十六FTD或相关疾病患者和无症状的家庭成员评估UCSF测试C9ORF72扩张(技术+:n = 37)。DARTEL-based分布形态测量学(VBM)分析结合灰白色地图进行结构磁共振bvFTD 25例(技术+:n = 6, C9 -: n = 19), 9 FTD-ALS情况(技术+:n = 5, C9 -: n = 4),和164年认知正常的老年人。比较分析:bvFTD (C9 +)与控制;bvFTD (C9)与控制;交互(C9 +) x (bvFTD)与bvFTD (C9)和控制;FTD-ALS (C9 +)与控制;FTD-ALS (C9)与控制;交互(C9 +) x (FTD-ALS)与FTD-ALS (C9)和控制。Results: BvFTD(C9+) cases demonstrated greater lateral parietal (right>left) and bilateral thalamic, and less medial frontal atrophy than bvFTD(C9-) cases. A significant interaction was found where bvFTD(C9+) patients showed greater thalamic (left>right; T=5.00, pFWE=0.05; T=4.05 puncorr<0.001), left posterior insular (T=3.67, puncorr<0.001), and right lateral parietal and occipital atrophy (T=3.30-3.44, puncorr<0.001) than bvFTD(C9-) patients. FTD-ALS(C9+) cases showed greater posterior atrophy (right>left), particularly in the medial occipital lobes and cerebellum, and less medial frontal and brainstem atrophy than FTD-ALS(C9-) cases. A significant interaction was found where FTD-ALS(C9+) cases demonstrated more atrophy in the right superior frontal gyrus (T=4.73, pFWE=0.03), bilateral central sulcus (T=3.67-3.70, pFWE=0.07) and inferior frontal pars triangularis (T=3.58, pFWE=0.07).Conclusions: We found greater posterior and thalamic atrophy in C9+ than in sporadic bvFTDs, and greater posterior and less brainstem atrophy in FTD/ALS(C9+) cases. If confirmed in larger samples, these findings suggest C9ORF72 confers specific atrophy patterns to bvFTD and FTD/ALS with potential clinical ramifications.Supported by: In part by M01-RR0079 General Clinical Research Center; the National Institute on Aging (NIA) grants 5-P01 AG19724 and P50 AG023501; the State of California, Alzheimer's Disease Research Center of California (ARCC) grant 03-7527; NIH grants R01AG038791, R01AG031278.Disclosure: Dr. Yokoyama has nothing to disclose. Dr. Takada has nothing to disclose. Dr. Sha has nothing to disclose. Dr. Karydas has nothing to disclose. Dr. Khan has nothing to disclose. Dr. Fong has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Coppola has nothing to disclose. Dr. Seeley has received personal compensation for activities with Korea Novartis. Dr. Boxer has received personal compensation for activities with BMS, Plexxikon and Phloronol as a consultant. Dr. Boxer has received research support from Elan, Forest, Genentech, Medivation, BMS, Janssen and Pfizer Pharmaceuticals. Dr. Miller has received personal compensation for activities with Allon Therapeutics, Inc. and TauRx Therapeutics, Ltd. Dr. Miller has received research support from Novartis. Dr. Rankin has nothing to disclose.Thursday, April 26 2012, 13:00 pm-17:00 pm ER -