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

Background: Microtubule-associated protein tau () 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 mutations in order to define their characteristics and explore genotype-phenotype correlations.