作者@article {WszolekP2.161 ={兹比格涅夫•Wszolek Pawel Tacik和迈克尔DeTure Wenlang林和莫妮卡桑切斯孔特雷拉斯Aleksandra Wojtas Shinsuke Fujioka和马修·贝克和罗纳德·沃尔顿和雅里Carlomango和帕特里夏·布朗和奥黛丽Strongosky Kouri拿俄米和梅丽莎·穆雷和基思·约瑟夫罗莎说Rademakers和欧文罗斯和丹尼斯·迪克森},title = p{这本小说。K317N MAPT基因的突变与临床病理的表现型的球状胶质tauopathy (P2.161)},体积={84}={14}补充数量,elocation-id = {P2.161} ={2015},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:球状胶质tauopathy (GGT)是一种罕见的4-repeat tauopathy病态定义为广泛的球状胶质夹杂物(GGIs)。首页病患GGIs包括Gallyas-positive球状oligodendroglial incusions和Gallyas-negative球状夹杂物。背景:所有与ggt 30例都是零星的。设计/方法:六GGT在大脑银行确认患者筛查microtubule-associatedτ蛋白基因的突变(MAPT)基因利用Sanger测序。系谱、临床、神经病理和基因数据收集。功能的研究包括微管装配,τ灯丝形成和免疫印迹。结果:有4个男性。死亡的平均年龄为72.7岁(55 - 83年)。意味着疾病持续时间为7.2年(为5 - 14岁)。 Mean age of onset was 65.5 years (50-77 years), and early symptoms included frontotemporal dementia (n=4), corticobasal syndrome (n=1) and short-term memory decline (n=1). Average brain weight was 1166.7 grams (1000-1260 grams). All brains demonstrated lobar atrophy of frontotemporal distribution. Three patients had a positive family history of dementia; the novel p.K317N mutation was identified in one of them. All patients were homozygous for the H1 MAPT haplotype. Recombinant K317N tau showed a reduced ability to promote microtubule polymerization by turbidity but no significant effect on the kinetics of tau filament aggregation when assessed using electron microscopy. CONCLUSIONS: While often sporadic, GGT can be caused by the novel MAPT p.K317N mutation. Sequencing of MAPT should be considered in patients with GGT and a positive family history of frontal lobe symptoms, motor neuron disease and/or extrapyramidal features. In patients who did not have MAPT mutations, other genetic factors may play a role in the pathogenesis of GGT. Study Supported by: NIH/NINDS P50 NS072187 and R01 NS078086, the NIH/NINDSP50 NS072187, the Michael J. Fox Foundation for Parkinson{\textquoteright}s Research, and the gift from Carl Edward Bolch, Jr., and Susan Bass Bolch and the Max Kade Foundation.Disclosure: Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism \& Related Disorders and the European Journal of Neurology. Dr. Tacik has nothing to disclose. Dr. DeTure has nothing to disclose. Dr. Lin has nothing to disclose. Dr. Sanchez Contreras has nothing to disclose. Dr. Wojtas has nothing to disclose. Dr. Fujioka has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Walton has nothing to disclose. Dr. Carlomango has nothing to disclose. Dr. Brown has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Kouri has nothing to disclose. Dr. Murray has nothing to disclose. Dr. Josephs has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Ross has nothing to disclose. Dr. Dickson has nothing to disclose.Tuesday, April 21 2015, 7:30 am-12:00 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/84/14_Supplement/P2.161}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }