PT -期刊文章盟安吉拉德国盟Rodolfo Savica AU -迈克尔·赫克曼AU -丹尼尔Brushaber AU -杰里米Syrjanen AU -霍华德·罗森盟亚当拳击手AU -布拉德利Boeve盟兹比格涅夫•Wszolek TI -电动机特性家族由于MAPT额颞叶痴呆,入库单或C9orf72突变(p3.1 - 007) DP - 2019年4月09年TA -神经病学第六PG - p3.1 - 007 - 92 IP - 15补充4099 - //www.ez-admanager.com/content/92/15_supplement/p3.1 007. - 007.短4100 - //www.ez-admanager.com/content/92/首页15_supplement/p3.1 - -全所以Neurology2019 4月09年;92 AB -目的:我们比较运动功能(fFTD)家族额颞叶痴呆患者MAPT突变,入库单或C9orf72基因。背景:没有数据可用微分运动迹象fFTD患者由于微分基因突变。设计/方法:临床数据对电动机特性以及84年的人口数据进行分析fFTD和突变患者MAPT (n = 31),入库单(n = 20)或C9orf72 (n = 31)基因。电机标牌出现在44个病人。所有患者被纳入家族FTD的纵向评价对象(LEFFTDS)研究。结果:发病年龄的运动特性是MAPT患者最低和最高C9orf72突变患者(48和67年;术中,0.05)。发病年龄的认知和行为迹象是MAPT最低和最高的入库单。C9orf72集团UPDRS III规模最低得分(意味着+ /−SD: 11.8 + /−13.1)。PSP量表分数最高的入库单集团(意味着+ /−SD: 17.1 + /−20.1)。 Dystonia was most severe in the GRN group. Saccadic impairment, resting tremor, hypokinesia and falls were most severe in the MAPT group. Muscle atrophy was most frequently seen in the C9orf72 Group (p<0.05).Conclusions: Differential severity of specific motor signs and differential ages at onset for motor, cognitive and behavioral features were seen in patients with fFTD associated with MAPT, GRN or C9orf72 mutations.Disclosure: Dr. Deutschlander has received research support from Allergan, Inc. Dr. Savica has nothing to disclose. Dr. Heckman has nothing to disclose. Dr. Brushaber has nothing to disclose. Dr. Syrjanen has nothing to disclose. Dr. Rosen has nothing to disclose. Dr. Boxer has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with AbbVie, Asceneuron, Cellgene, Ipierian, Ionis, Janssen, Merck, Novartis, Toyama and UCB. Dr. Boxer holds stock and/or stock options in Alector and Aeton Therapeutics. Dr. Boxer has received research support from NIH, the Tau Consortium, the University of California Cures Alzheimer’s Disease program, the Bluefield Project to Cure FTD, Corticobasal Degeneration Solutions, and the following companies: Avid, Biogen, Bristol Myers Squibb, C2N Diagnostics, Cortice Biosciences, Eli Lilly, Forum Pharmaceuticals, Genentech, Roche and TauRx. Dr. Boeve has received research support from Biogen. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G (G2019S)".