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Article

Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.

Frontiers in bioscience (Landmark edition) - 16 Jan 2024

Villa Cristina, Pellencin Elisa, Romeo Aurora, Giaccone Giorgio, Rossi Giacomina, Prioni Sara, Caroppo Paola

Abstract excerpt

BACKGROUND: Microtubule-associated protein tau (MAPT) mutations are one of the main causes of genetic Frontotemporal dementia (FTD) and are characterised by high clinical heterogeneity. A behavioural variant of FTD is the principal phenotype, but other rarer phenotypes are described, mostly reported as single cases. In this review, we provide an overview of the clinical phenotypes associated with MAPT mutations...

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PMID: 38287807
DOI: 10.31083/j.fbl2901012

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