Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort.

ABSTRACT:

Background and purpose

Huntington's disease (HD) is an autosomal dominant condition caused by CAG-triplet repeat expansions. CAG-triplet repeat expansion is inversely correlated with age of onset in HD and largely determines the clinical features. The aim of this study was to examine the phenotypic and genotypic correlates of late-onset HD (LoHD) and to determine whether LoHD is a more benign expression of HD.

Methods

This was a retrospective observational study of 5053 White European HD patients from the ENROLL-HD database. Sociodemographic, genetic and phenotypic variables at baseline evaluation of subjects with LoHD, common-onset HD (CoHD) and young-onset HD (YoHD) were compared. LoHD subjects were compared with healthy subjects (HS) aged ≥60 years. Differences between th

SUBMITTER: Petracca M 

PROVIDER: S-EPMC9324106 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature