Huntington’s disease (HD) is a rare genetic neurological disorder.

Symptoms increase over time in severity, and typically include random, uncontrolled movements (so-called chorea), several cognitive deficits as well as psychiatric problems.

HD is caused by an abnormal expansion of a trinucleotide repeat in the huntingtin gene. This mutation is inherited autosomal-dominant, this means that children of patients have a 50% chance of inheriting the mutant huntingtin gene. The expanded trinucleotide CAG codes for the amino acid glutamine, and HD is therefore one of several polyglutamine diseases. The result is a mutant huntingtin protein, which eventually leads to neuronal cell death in certain areas of the brain, especially the frontal lobes and the striatum.

Research at the BRC into HD takes many different approaches and ranges from studying the basic molecular mechanisms, i.e. how exactly the mutant huntingtin is toxic to the neurons is not clear, to clinical studies which involve investigations into the neuropsychology of HD, the search for new biomarkers and assessing the efficacy of striatal transplants in HD patients.

To contact the clinic, please call us on 01223 761 863 or email add-tr.hdclinic@nhs.net.