title: Semantic dementia associated with mutation V363I in the tau gene.
abstract: A 46-year-old woman who presented with prosopagnosia was clinically evaluated. Results of neuropsychological measures showed severe impairment in oral naming with anomia and a marked deficit in naming and recognition of famous faces. The clinical diagnosis was semantic dementia (SD). Genetic testing revealed a missense mutation V363I in exon 12 of the microtubule-associated protein tau (MAPT) gene. This is the description of an association between a mutation in the MAPT gene and a case of SD. The same mutation was recently described in a case of progressive non-fluent aphasia, but the prominent presenting feature in tau gene mutation cases is the behavioral variant of frontotemporal dementia, with typical symmetrical frontotemporal atrophy.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85-50134 Florence, Italy. valentina.bessi@unifi.it
authors.forename: Valentina
authors.initials: V
authors.lastname: Bessi
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.forename: Laura
authors.initials: L
authors.lastname: Bracco
mesh_terms: D004247:DNA / Q000235:genetics; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics* / Q000523:psychology; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009483:Neuropsychological Tests; D020238:Prosopagnosia / Q000235:genetics* / Q000523:psychology; D021641:Recognition, Psychology / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins; D004247:DNA