Article
A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia.
Journal of Alzheimer's disease : JAD - 1 Jan 2011
Villa Chiara, Ghezzi Laura, Pietroboni Anna M, Fenoglio Chiara, Cortini Francesca, Serpente Maria, Cantoni Claudia, Ridolfi Elisa, Marcone Alessandra, Benussi Luisa, Ghidoni Roberta, Jacini Francesca, Arighi Andrea, Fumagalli Giorgio G, Mandelli Alessandra, Binetti Giuliano, Cappa Stefano, Bresolin Nereo, Scarpini Elio, Galimberti Daniela
Abstract excerpt
A number of mutations in microtubule associated protein tau gene (MAPT), causing frontotemporal lobar degeneration (FTLD) with tau pathology, are located in the four-repeated microtubule (MT) binding domains and affect the ability of tau to bind MTs. Here, we describe a novel variant lying in the second MT domain, found in a female patient diagnosed clinically with progressive nonfluent aphasia (PNFA), with a...
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