"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 criteria. This patient’s description expands the spectrum of clinical presentations of. frontotemporal lobar degeneration caused by the GRN Cys157LysfsX97 mutation."
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype
Agosta, F;Comi, Giancarlo;Filippi, Massimo;
2012-01-01
Abstract
"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 criteria. This patient’s description expands the spectrum of clinical presentations of. frontotemporal lobar degeneration caused by the GRN Cys157LysfsX97 mutation."File in questo prodotto:
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