Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD.

ABSTRACT:

Background

Huntington disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion on chromosome 4. Pathology is associated with CAG repeat length. Prior studies examining people in the intermediate allele (IA) range found subtle differences in motor, cognitive, and behavioral domains compared to controls.

Objective

The purpose of this study was to examine baseline and longitudinal differences in motor, cognitive, behavioral, functional, and imaging outcomes between persons with CAG repeats in three ranges: normal (≤26), intermediate (27-35), and reduced penetrance (36-39).

Methods

We examined longitudinal data from 389 participants in three allele groups: 280 normal controls (NC), 21 intermediate allele [IA], and 88 reduced penetrance [RP]. We used li

SUBMITTER: Downing NR 

PROVIDER: S-EPMC6258187 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature