Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation.

ABSTRACT:

Introduction

While ≥ 40 CAG repeat expansions in HTT present a well-established cause of Huntington's disease (HD), an enrichment of HTT repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including FTD/ALS patients with additional HD neuropathology. This raises the question whether the phenotypic spectrum of HTT expansions can be extended to ALS and FTD, and whether HTT should be considered as a new causative gene of FTD/ALS. If HTT repeat expansions were indeed systematically related to FTD/ALS, one would expect an increased frequency of HTT carriers in FTD/ALS, who can clinically/neuropathologically not be explained better than by the presence of the HTT repeat expansions.

Methods

Screening o

SUBMITTER: Zimmermann M 

PROVIDER: S-EPMC11638390 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature