Article
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype.
Journal of Alzheimer's disease : JAD - 1 Jan 2012
Caso Francesca, Villa Chiara, Fenoglio Chiara, Santangelo Roberto, Agosta Federica, Coppi Elisabetta, Falautano Monica, Comi Giancarlo, Filippi Massimo, Scarpini Elio, Magnani Giuseppe, Galimberti Daniela
Abstract excerpt
The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far reported only once in a patient with frontotemporal dementia. Here, we describe a 63-year old patient carrying the same mutation, presenting with a 3-year history of language disorder, and diagnosed clinically with nonfluent variant of primary progressive aphasia according to current...
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