title: The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype.
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.
authors.affiliation: Department of Neurology, Scientific Institute and University Vita-Salute San Raffaele, Milan, Italy. caso.francesca@hsr.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Caso
authors.forename: Chiara
authors.initials: C
authors.lastname: Villa
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Roberto
authors.initials: R
authors.lastname: Santangelo
authors.forename: Federica
authors.initials: F
authors.lastname: Agosta
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Coppi
authors.forename: Monica
authors.initials: M
authors.lastname: Falautano
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Comi
authors.forename: Massimo
authors.initials: M
authors.lastname: Filippi
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Magnani
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
mesh_terms: D018888:Aphasia, Primary Progressive / Q000175:diagnosis / Q000235:genetics*; D003553:Cystine / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008239:Lysine / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000077153:Progranulins
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D003553:Cystine; D008239:Lysine