Huntington's disease

rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia

Chorea, or (rarely) choreia, () is an abnormal involuntary movement disorder, characterized by quick movements of the hands or feet. It is one of a group of neurological disorders called dyskinesias. The term chorea is derived , as the movements of the body are comparable to dancing.

American physician (1850–1916); discoverer of Huntington's disease

Tetrabenazine is a drug for the symptomatic treatment of hyperkinetic movement disorders. It is sold under the brand names Nitoman and Xenazine among others. On August 15, 2008, the US Food and Drug Administration (FDA) approved the use of tetrabenazine to treat chorea associated with Huntington's disease. Although other drugs had been used "off-label", tetrabenazine was the first approved treatment for Huntington's disease in the United States. The compound has been known since the 1950s.

Huntingtin (Htt) is a human protein encoded by the HTT gene, also known as IT15 ("interesting transcript 15"). Pathogenic expansions in HTT (disease-causing repeat length increases) cause Huntington's disease (HD), and the protein has also been implicated in mechanisms of long-term memory storage.

fictional character

American geneticist

British rower

a genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or introns exceed the normal, stable threshold, which differs per gene

historical line of inquiry

Irish-British neurologist

Deutetrabenazine, sold under the brand name Austedo, is a vesicular monoamine transporter 2 inhibitor which is used for the treatment of chorea associated with Huntington's disease and tardive dyskinesia.

inclusion bodies for misfolded proteins

Pridopidine (developmental code name PL-101) is an orally administrated small molecule investigational drug. Pridopidine is a selective and potent sigma-1 receptor agonist. It is being developed by Prilenia Therapeutics and is currently in late-stage clinical development for Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS).

thumb|The humanin gene is found within the 16S rRNA gene (MT-RNR2) in the mitochondrial genome Humanin is a micropeptide encoded in the mitochondrial genome by the 16S ribosomal RNA gene, MT-RNR2. Its structure contains a three-turn α-helix, and no symmetry.

neuroscientist (1943-2014)