Huntington’s Disease (HD) is a genetic, neurodegenerative disorder that is characterised by motor, cognitive and neuropsychiatric dysfunction. We recently completed the HD-YAS study for which structural, diffusion, functional (resting state and task) and multiparametric mapping data were acquired in a group of young adults with the HD-gene.
The goal is to investigate the point at which brain changes begin to occur in HD gene-carriers; this is particularly important given the ongoing Phase 3 HD ‘gene silencing’ antisense oligonucleotide therapy trial and our understanding of the optimal time for therapeutic intervention.
- Polyglutamine diseases Current Opinion in Neurobiology, 72, 39-47 DOI: 10.1016/j.conb.2021.07.001
- FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease CELL REPORTS, 36 (9) DOI: 10.1016/j.celrep.2021.109649
- View all publications by the Huntington’s Disease team