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1. TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

Author

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., and Villarejo-Galende, A.

Subjects
MOTOR neuron diseases, FRONTOTEMPORAL lobar degeneration, LITERATURE reviews, DNA-binding proteins, APHASIA, FRONTOTEMPORAL dementia
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2018
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