Huntington's Disease

The abilities to move, act, and think that are affected by Huntington’s disease (HD) are controlled by different brain pathways, referred to as networks. Our brain has some ability to keep working efficiently when these networks become injured in the earliest stages of HD. However, as the injury worsens, the brain can’t carry on functioning as needed, and symptoms appear. We are more likely to be able to slow down HD if we give treatments before this amount of network injury has happened and before symptoms begin. However, to do this, we need to identify some signature (or “biomarker”) which tells us that the earliest stages of HD have begun.

In this project, thanks to pilot support from the o8t Infinitome Imaging Award 2021 and the Brainbox Initiative Research Challenge Prize 2020, we are directly measuring brain activity in people who will develop Huntington’s disease in future but do not have symptoms yet.  We aim to detect early problems in brain function to help us identify biomarkers by comparing brain network function between people with the HD mutation and those without. The goal is to develop tests that measure early brain injury in HD, assess if drugs can reverse or stop this injury, and allow for early diagnosis and intervention. We aim to expand this project with further research funding.

We use three non-invasive tools; electroencephalography (EEG), transcranial magnetic stimulation (TMS), and magnetic resonance imaging (MRI). EEG measures electrical activity in the brain; TMS uses magnetic fields to stimulate nerve cells and measure their function; and MRI creates detailed images of the brain. Using these tools, we measure how well different brain networks are working. We compare these measurements between people carrying the HD mutation, who do not have symptoms, and those who do not carry this mutation and will not develop HD. From this, we can detect signatures of early signs of HD to help us identify if the disease has begun.

In this study, we are seeking participants who are Huntington’s Disease Gene Expansion Carriers (HDGECs) and their relatives (genotype unknown or non-HDGECs).

To get more information or to express your interest in getting involved as a study participant, contact us and mention which studies you are interested in.