% 0期刊文章%曼扎诺高田%一个沙龙沙%凯瑟琳·兰金% Jennifer Yokoyama %大汗% %杰米·方%玛丽安娜Karydas DeJesus-Hernandez %一个尼古拉·卢瑟福%马修·贝克%一个罗莎说Rademakers %乔凡尼·科波拉%威廉·布鲁斯·米勒斯利%亚当拳击手% % T的神经精神特征C9ORF72Mutation-Associated bvFTD和FTD-ALS (S44.004) % D J神经病学2012% 首页% P S44.004-S44.004 % V 78% N 1补充% X目的:描述神经精神功能与C9ORF72突变行为变异的额颞叶痴呆(bvFTD)和FTD-amyotrophic侧索硬化症(FTD-ALS)。背景Hexanucleotide重复扩张C9ORF72基因可能是最常见的遗传原因bvFTD FTD-ALS,但与C9ORF72突变相关的神经功能仍很大程度上无特征。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)。八十六例(C9 + / bvFTD = 12;C9 - / bvFTD = 47;制备过程+ / FTD-ALS = 11;图表C9 - / FTD-ALS = 16)进行盲审查确定首次报道神经精神症状。神经精神病学的库存(NPI)成绩首先评估分析了C9 +病例和的一个子集C9 - / bvFTD控制匹配通过MMSE和CDR-SB疾病严重程度。结果:第一个神经精神症状:C9 + / bvFTD,妄想和侵略更频繁地报道表现症状(p = 0.04)。在C9 + / FTD-ALS,皮疹/粗心的行为(p = 0.04)和更大的去抑制(p = 0.13),而冷漠,焦虑和抑郁较少报道(p = 0.09, 0.12和0.12)相比C9 - / FTD-ALS病人。首先评估:在NPI C9 + / bvFTD病例少去抑制(p = 0.04),异常的电动机(p = 0.03)和进食行为(p = 0.08),但焦虑(p = 0.12)高于C9 - bvFTDs。在FTD-ALS C9 +和C9 - NPI分数没有差别。总NPI成绩没有在两组基因型差异。Conclusions: In bvFTD, C9ORF72 mutation carriers' first neuropsychiatric symptoms are more frequently delusions and aggression. Later they develop greater anxiety than non-carriers with bvFTD but show less disinhibition or aberrant eating/motor behaviors. In FTD-ALS, C9ORF72 mutation carriers display greater disinhibition as their first symptom, but later become neuropsychiatrically indistinct from non-carriers with FTD-ALS. Further investigation in larger samples will improve differentiation of the neuropsychiatric features caused by C9ORF72 mutations.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. Takada has nothing to disclose. Dr. Sha has nothing to disclose. Dr. Rankin has nothing to disclose. Dr. Yokoyama has nothing to disclose. Dr. Khan has nothing to disclose. Dr. Karydas 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.Thursday, April 26 2012, 13:00 pm-14:45 pm %U