A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study.

ABSTRACT:

Background and objectives

The variable CAG repeat expansion in the huntingtin gene and its inverse relationship to motor dysfunction onset are fundamental features of Huntington disease (HD). However, the wider phenotype (including non-motor features) at particular CAG lengths, ages, and functional levels is less well-characterized. The large number of participants in the Enroll-HD observational study enables the development of a phenotype atlas that summarizes the range and distribution of HD phenotypes, including outliers and possible clusters, with respect to various CAG repeat lengths, age ranges, and declining functional levels.

Methods

Enroll-HD is an ongoing prospective longitudinal observational study that collects natural history data, releasing periodic data sets,

SUBMITTER: Langbehn DR 

PROVIDER: S-EPMC10684052 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature