CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

ABSTRACT:

Objective

Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

Methods

We modeled natural log-transformed age at onset as a function of CAG repeat lengths of expanded and normal alleles and their interaction by linear regression.

Results

An apparently significant effect of interaction on age at motor onset among 4,0

SUBMITTER: Lee JM 

PROVIDER: S-EPMC3306163 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature