Huntington's Disease

HD is the most common among those movement diseases collectively named choreas. The term “chorea” (meaning dance) was borrowed from the ancient Greek theatre to describe the slow, non-patterned involuntary movements, characteristic of the disease.

HD is an autosomal dominant disorder, caused by the expanded repetition of the trinucleotide CAG on the gene HTT (encoding for the protein huntingtin). The number of CAG repetitions is expanded in patients, with a larger repeat number correlating with an earlier age of disease onset (most commonly between 25 to 45 years).

The patients present with a triad of symptoms, which includes:

Movement Disorders

the slow choretic movements rapidly progress to dystonias, rigidity, postural instability and, eventually, akinesia

Cognitive Decline

various degrees of intellectual impairment and memory loss will proceed to a frank dementia at the late stages of the disease

Behavioral Problems

while depression is the main complain among the patients, a small percentage can experience maniac episodes as well as obsessive-compulsive behaviors

Thus far, the only available option to improve the quality of life and prevent the complications in HD patients is through symptomatic treatments. Unfortunately, addressing the hyperkinetic movements with tetrabenazine or controlling the psychotic episodes with risperidone do not actually change the progression of this neurodegenerative disease.

Useful Links & Resources

The Huntington’s Disease Society of America (HDSA) is the premier nonprofit organization dedicated to improving the lives of everyone affected by Huntington’s disease. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today, hope for tomorrow for people with Huntington’s disease and their families. In the battle against Huntington’s disease no one fights alone.”

Website at https://hdsa.org

This resource is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. Specifically, this page is designated for Huntington’s Disease research, entry #143100.

Webpage entry found at http://www.omim.org/entry/143100

Corticostriatal Dysfunction in Huntington’s Disease: The Basics

Webpage found at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924423/