% 0期刊文章% Stephen Weigand Jennifer Whitwell % %一个布拉德利Boeve %马修Senjem %玛丽DeJesus-Hernandez %一个David Knopman马修·贝克% %一个约瑟夫·帕里兹比格涅夫•Wszolek % %一个丹尼斯·迪克森%罗纳德·彼得森%罗莎说Rademakers % Clifford杰克%的基思·约瑟夫% T神经解剖学的签名C9ORF72:比较MAPTProgranulin和零星的FTD (in9 - 2.004) % D J神经病学2012% % P in首页9 - 2.004 - in9 - 2.004 V % 78% N 1补充% X目的:确定区域的脑萎缩模式与C9ORF72受试者基因突变导致额颞叶痴呆(FTD),并利用先进的统计方法来确定哪些地区最好的区分C9ORF72 microtubule-associated主题与突变的蛋白质,τ(MAPT)和Progranulin(入库单)基因,从零星FTD。背景直到最近,两种最常见的基因突变负责常染色体显性遗传家族FTD MAPT和入库单。然而,另一个最近被发现在C9ORF72基因突变和已被证明是最常见的基因异常在家族FTD和肌萎缩性脊髓侧索硬化症。对这种突变的神经解剖学的协会。设计/方法:我们确定了19个学科C9ORF72突变,以及26 MAPT突变,与入库单突变,18和20零星FTD MRI。Atlas-based分割进行了利用自动化的解剖标记图谱和SPM5计算卷37感兴趣的整个大脑。半球不对称计算。惩罚逻辑回归是利用对称多项式模型使用所有地区卷,不对称分数,和年龄。主成分分析(PCA)评估群体内部的差异。结果:C9ORF72与对称的萎缩主要包括背外侧,内侧前额叶,额外损失前颞叶、顶叶和小脑。惩罚逻辑回归确定了16个变量,包括额叶、颞叶、顶叶、枕叶、小脑和体积,以及年龄和不对称,跨组织提供优秀的歧视,准确分类78/83(94%)的主题。 The PCA revealed a similar degree of heterogeneity within all four disease groups.Conclusions: Patterns of atrophy in C9ORF72 are distinct from MAPT, GRN, and sporadic FTD, and involve the cerebellum. Imaging data can differentiate C9ORF72 from these other groups with high accuracy at the single-subject level, and could therefore be useful to help predict the presence of C9ORF72 gene mutations.Supported by: NIH grants P50 AG16574, R01 AG11378, R01 NS065782, R01 AG037491, the Association for FTD and ALS Association.Disclosure: Dr. Whitwell has nothing to disclose. Dr. Weigand has nothing to disclose. Dr. Boeve has nothing to disclose. Dr. Senjem has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Baker 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. Wszolek has received personal compensation in an editorial capacity for Parkinsonism and Realted Disorders and European Journal of Neurology. Dr. Parisi has nothing to disclose. Dr. Dickson has nothing to disclose. 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. Dr. Jack has received personal compensation for activities with Janssen Pharmaceutica, Eisai Inc, General Electric, Johnson and Johnson, and Eli Lilly & Company as a consultant.Dr. Jack has received research support from Pfizer Inc, Allon, and Baxter, Inc. Dr. Josephs has nothing to disclose.Thursday, April 26 2012, 13:00 pm-17:00 pm %U