TARDBP Variation Associated with Frontotemporal Dementia, Supranuclear Gaze Palsy, and Chorea
TARDBP Variation Associated with Frontotemporal Dementia, Supranuclear Gaze Palsy, and Chorea
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DOI：
10.1002/mds.22697
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发表时间：
2009-09-15
影响因子：
8.6
通讯作者：
Spina, Salvatore
中科院分区：
文献类型：
--
作者：
Kovacs, Gabor G.;Murrell, Jill R.;Spina, Salvatore
TDP-43已被鉴定为在大多数额颞叶变性和肌萎缩侧索硬化（ALS）病例中的病理蛋白。迄今为止，TARDBP突变与家族性和散发性ALS独特相关。我们描述的临床病理学和遗传学研究结果在新的K263 E TARDBP变异的载体，谁开发额颞叶痴呆，核上性麻痹，舞蹈病，但没有运动神经元疾病的迹象。神经病理学检查发现神经元和神经胶质TDP-43免疫反应沉积，主要在皮质下核和脑干。这是第一次报告与ALS以外的神经退行性综合征相关的TARDBP变异。(C)2009运动障碍协会
TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS. (C) 2009 Movement Disorder Society