Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

ABSTRACT:

Objectives

We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.

Methods

The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were evaluated.

Results

The most frequent phenotype was a behavioral variant frontotemporal dementia (bvFTD), but a significant proportion (40%) of our patients had semantic (svFTD) or nonfluent variants (nfvFTD) at onset; and svFTD was significantly more frequent in TARDBP carriers than in other FTD genotypes (p < 0.001). Remarkably, only a minority (40%) of our patients secondarily developed amyotrophic

SUBMITTER: Caroppo P 

PROVIDER: S-EPMC4882769 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature