Huntington disease phenotype in homozygous versus heterozygous allele carriers

Takeaway

  • Homozygous and heterozygous Huntington disease (HD) mutation carriers had similar disease phenotypes, age at onset, and disease progression.

Why this matters

  • The similarities between HD in homozygous and heterozygous mutation carriers indicates that the shorter CAG-expanded allele does not have a significant influence on HD progression.