Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.

ABSTRACT:

Objectives

We aimed to describe the clinical phenotype conferred by the intermediate-length huntingtin allele CAG repeat expansion in a population-based study.

Methods

The Prospective Huntington At Risk Observational Study (PHAROS) enrolled adults at risk for Huntington disease (HD). They were assessed approximately every 9 months with the Unified Huntington's Disease Rating Scale (UHDRS) by investigators unaware of participants' gene status. UHDRS scores were compared according to the Huntingtin gene CAG repeat number: expanded >36, intermediate 27-35, and nonexpanded controls <26.

Results

Fifty (5.1%) of the 983 participants had an intermediate allele (IA). They were similar to controls on UHDRS motor, cognitive, and functional measures, but significantly worse beha

SUBMITTER: Killoran A 

PROVIDER: S-EPMC3716408 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature