TY -的T1 C9ORF72突变患者在两个慢慢进步bvFTD“拟表型”(S54.006) JF -神经学乔-神经病学SP - S54.006 LP - S54.006六世- 78 - 1补充AU -大汗AU -首页凯瑟琳·兰金盟沙龙沙盟高田曼扎诺盟-珍妮弗Yokoyama盟安娜Karydas AU -杰米方非盟-尼古拉·卢瑟福盟-马修·贝克AU -玛丽DeJesus-Hernandez AU -乔瓦尼·科波拉盟罗莎说Rademakers AU -霍华德·罗森AU -威廉·斯利盟-亚当拳击手AU -布鲁斯·米勒Y1 - 2012/04/26 UR - //www.ez-admanager.com/content/78/1_Supplement/S54.006.abstract N2 -目的:描述两个慢慢进步的行为变异患者额颞叶痴呆(bvFTD-SP)港C9ORF72 hexanucleotide重复扩张。背景有些病人会议bvFTD诊断标准进展缓慢,高原轻度症状严重程度。以前,这样的病人特性稳定的纵向大脑成像显示轻度萎缩不是典型的bvFTD的暗示,被称为bvFTD拟表型。The few post-mortem studies available on bvFTD-SP patients did not find FTLD neuropathology, suggesting that bvFTD-SP is a clinical syndrome that mimics true FTD. Here we describe two bvFTD-SP cases with FTD/ALS-associated C9ORF72 mutations.Design/Methods: We reviewed clinical data from 82 patients meeting FTDC consensus criteria for possible bvFTD, without motor neuron disease at initial evaluation, who had been screened for the C9ORF72 expansion. Patients were categorized as bvFTD-SP if they subsequently showed minimal progression on neurological, neuropsychological and imaging evaluations, with stable symptoms for at least five years without atrophy characteristic of bvFTD.Results: Four of 82 patients screened were categorized as bvFTD-SP, including 2/15 (13.3%) of C9ORF72 mutation carriers and 2/67 (3.0%) non-carriers. Over a follow-up period ranging from 2-6 years, all four bvFTD-SPs had milder cognitive deficits compared to typical bvFTDs, and all lacked characteristic bvFTD imaging abnormalities. As measured by voxel based morphometry, one C9ORF72-positive patient had predominantly thalamic atrophy and the other displayed a non-specific pattern of cortical atrophy without medial or orbito-insular frontal atrophy characteristic of bvFTD. Both C9ORF72 mutation carriers had a family history of late-life behavioral disorders, whereas neither of the non-carriers had a family history suggestive of neurodegenerative disease.Conclusions: Slowly progressive bvFTD can result from the C9ORF72 hexanucleotide expansion. Clinicians should consider genetic causes when evaluating a patient with slowly progressive bvFTD, especially when faced with a family history of neurodegenerative disease.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 and R01AG031278.Disclosure: Dr. Khan has nothing to disclose. Dr. Rankin has nothing to disclose. Dr. Sha has nothing to disclose. Dr. Takada has nothing to disclose. Dr. Yokoyama has nothing to disclose. Dr. Karydas has nothing to disclose. Dr. Fong has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Coppola has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Rosen 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, 15:00 pm-16:30 pm ER -