Stephen J Sawiak1, Nigel I Wood1, T Adrian Carpenter1, and A Jennifer Morton1
is caused by an unstable gene carrying excessive polyglutamine CAG repeats.
Patients with genes carrying more CAG repeats have a less favourable outcome.
The R6/2 mouse has a fragment of the human HD gene with 100 CAG repeats. We
compared mice carrying longer CAG repeats (250 and 350) with wildtype controls
using high-resolution in vivo longitudinal MRI and spectroscopy. Paradoxically,
the 350CAG mice live longer, with ultimately similar but much slower atrophy
and metabolic changes than 250CAG mice. They may, therefore, be a more useful
model of HD with a longer window to evaluate pathology and treatments.