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.
Semantic dementia associated with mutation V363I in the tau gene / Bessi V.; Bagnoli S.; Nacmias B.; Tedde A.; Sorbi S.; Bracco L.. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - STAMPA. - 296(1-2)(2010), pp. 112-114.