Huntington's Disease

Project Lead – Dr Oliver Quarell 

Huntington’s Disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington’s Chorea or HC. Huntington’s disease usually develops in adulthood and can cause a very wide range of symptoms. It affects both men and women.

Huntington’s disease is caused by a faulty gene on chromosome 4. The gene, which produces a protein called Huntingtin, was discovered in 1993. In some way which is not yet understood the faulty gene leads to damage of the nerve cells in areas of the brain including the basal ganglia and cerebral cortex. This leads to gradual physical, mental and emotional changes.

Each person whose parent has Huntington’s disease is born with a 50:50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Regional Genetic Clinics throughout the country. This will usually be able to show whether someone has inherited the faulty gene, but it will not show the age at which they will develop
the disease.

With a ratio of 1 per 10,000 developing Huntington’s disease the issues involved within this research is that participants show symptoms that make it difficult for patients to attend clinics. Emotional symptoms include depression. They can become frustrated at being unable to work or do previously simple tasks. They may behave stubbornly, and have mood swings. People with Huntington's may also become more irritable and antisocial than usual.

The research that Dr Quarrell is undertaking is the European Huntington’s Disease Network REGISTRY study. REGISTRY is conducted in 16 European countries and is looking to recruit at least 10,000 individuals affected by Huntington’s disease. Dr Quarrell is assisting in the recruitment of new patients to REGISTRY- a project that aims to improve our knowledge of this disease and work to discover and develop therapies to delay or slow HD. CLAHRC is funding a small part of Dr Quarrell’s time to recruitment to Huntington’s Disease (HD) REGISTRY for a two year period.

Useful Links

Dementias & Neurodegenerative Diseases Research Network 


           European Huntington’s Disease Network