与语义变异型原发性进行性失语相关的TARDBP突变：病例报告及文献综述
TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.
作者信息
González-Sánchez M, Puertas-Martín V, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Méndez-Guerrero A, Llamas-Velasco S, Herrero-San Martín A, Cordero-Vázquez P, Herrero-Manso M C, Pérez-Martínez D A, Villarejo-Galende A
机构信息
a Department of Neurology , Hospital Universitario 12 de Octubre , Madrid , Spain.
b Group of Neurodegenerative Diseases , Hospital 12 de Octubre Research Institute (i+12) , Madrid , Spain.
出版信息
Neurocase. 2018 Oct-Dec;24(5-6):301-305. doi: 10.1080/13554794.2019.1581225. Epub 2019 Feb 16.
Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.
语义变异型原发性进行性失语（svPPA）是额颞叶痴呆（FTD）谱系中的一种临床综合征。与其他形式的FTD不同，它在大多数病例中是散发性的，通常不与运动神经元病（MND）相关。我们描述了同一家庭中因反式激活应答DNA结合蛋白（TARDBP）基因突变而与MND相关的svPPA病例，并对文献进行了综述。
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