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Open Access 09-04-2024 | Frontotemporal Dementia | Research

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation

Authors: Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, Francesca Lattuada, Cinzia Crivellaro, Francesca Bertola, Veronica Castelnovo, Elisa Canu, Massimo Filippi, Ildebrando Appollonio, Carlo Ferrarese, Federica Agosta, Lucio Tremolizzo

Published in: Neurogenetics

Abstract

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 progressed rapidly, exhibiting speech difficulties and cognitive decline. Neuroimaging via FDG-PET revealed asymmetrical frontotemporal hypometabolism. Three siblings subsequently showed varied but consistent clinical manifestations, including abnormal behavior, speech impairments, memory deficits, and motor symptoms correlating with asymmetric frontotemporal atrophy observed in MRI scans.

Based on the genotype–phenotype correlation, we propose that the p.K298E mutation results in early-onset behavioral variant FTD, accompanied by a various constellation of speech and motor impairment.

This detailed characterization expands the understanding of the p.K298E mutation's clinical and neuroimaging features, underlining its role in the pathogenesis of FTD. Further research is crucial to comprehensively delineate the clinical and epidemiological implications of the MAPT p.K298E mutation.

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Title: Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Authors: Federico Emanuele Pozzi
Vittoria Aprea
Ginevra Giovannelli
Francesca Lattuada
Cinzia Crivellaro
Francesca Bertola
Veronica Castelnovo
Elisa Canu
Massimo Filippi
Ildebrando Appollonio
Carlo Ferrarese
Federica Agosta
Lucio Tremolizzo
Publication date: 09-04-2024
Publisher: Springer Berlin Heidelberg
Keywords: Frontotemporal Dementia
Frontotemporal Dementia
Published in: Neurogenetics
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-024-00756-w

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Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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