14 Facts About Huntington's disease

Huntington's disease, known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited.

Research directions include determining the exact mechanism of the Huntington's disease, improving animal models to aid with research, testing of medications and their delivery to treat symptoms or slow the progression of the Huntington's disease, and studying procedures such as stem-cell therapy with the goal of replacing damaged or lost neurons.

The Huntington's disease mutation is genetically dominant and almost fully penetrant; mutation of either of a person's HTT alleles causes the disease.

Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat from an affected parent.

Rarely is Huntington's disease caused by a new mutation, where neither parent has over 36 CAG repeats.

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Accordingly, the Huntington's disease is thought not to be caused by inadequate production of Htt, but by a toxic gain-of-function of mHtt in the body.

Autopsied brains of those who had Huntington's disease have been found to have incredibly reduced amounts of CBP.

Medical imaging, such as a CT scan or MRI scan, can show atrophy of the caudate nuclei early in the Huntington's disease, as seen in the illustration to the right, but these changes are not, by themselves, diagnostic of HD.

Predictive testing for Huntington's disease has been available via linkage analysis since 1986 and via direct mutation analysis since 1993.

The European Molecular Genetics Quality Network have published yearly external quality assessment scheme for molecular genetic testing for this Huntington's disease and have developed best practice guidelines for genetic testing for HD to assist in testing and reporting of results.

Huntington's disease specifically noted that in Setesdalen, a secluded mountain valley in Norway, the high prevalence of dementia was associated with a pattern of jerking movement disorders that ran in families.

Development of an accurate diagnostic test for Huntington's disease has caused social, legal, and ethical concerns over access to and use of a person's results.

In 2020 there were 197 clinical trials related to varied therapies and biomarkers for Huntington's disease listed as either underway, recruiting or newly completed.

Compounds trialled, that have failed to prevent or slow the progression of Huntington's disease include remacemide, coenzyme Q10, riluzole, creatine, minocycline, ethyl-EPA, phenylbutyrate and dimebon.