Article
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.
Neurogenetics - 1 Jul 2024
Pozzi Federico Emanuele, Aprea Vittoria, Giovannelli Ginevra, Lattuada Francesca, Crivellaro Cinzia, Bertola Francesca, Castelnovo Veronica, Canu Elisa, Filippi Massimo, Appollonio Ildebrando, Ferrarese Carlo, Agosta Federica, Tremolizzo Lucio
Abstract excerpt
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression.A 60-year-old male presented with significant behavioral changes and...
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