Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.

ABSTRACT:

Background

Careful characterization of the phenotype and genotype of Huntington disease (HD) can foster better understanding of the condition.

Methods

We conducted a cohort study in the United States, Canada, and Australia of members of families affected by HD. We collected demographic and clinical data, conducted the Unified Huntington's Disease Rating Scale and Mini-Mental State Examination, and determined Huntingtin trinucleotide CAG repeat length. We report primarily on cross-sectional baseline data from this recently completed prospective, longitudinal, observational study.

Results

As of December 31, 2009, 2,318 individuals enrolled; of these, 1,985 (85.6%) were classified into six analysis groups. Three groups had expanded CAG alleles (36 repeats or more): indiv

SUBMITTER: Huntington Study Group COHORT Investigators 

PROVIDER: S-EPMC3281013 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature