Pattern of brain changes in models of juvenile-onset Huntington disease


  • In both human patients with juvenile-onset Huntington disease (JOHD) and mouse models of JOHD, total brain volume (TBV) is decreased and cerebellum volume is increased relative to intracranial volume (ICV) versus healthy controls (HC).

Why this matters

  • Motor symptoms in JOHD (hypokinetic) differ from adult-onset Huntington disease (AOHD; hyperkinetic), but the brain changes that drive this difference are unknown; because JOHD patients make up 5% of Huntington disease (HD) cases in the US, imaging data are lacking.

  • This study both presents neuroimaging data in JOHD patients and correlates features in a mouse model with human neuroanatomy, providing a method for investigating JOHD mechanisms.