Huntington’s Disease

Huntington’s disease (or Huntington’s Chorea) is a dominant neurodegenerative disease which is transmitted genetically. It is contracted at adult age, on average at the age of 35, but results from the mutation of a gene at the embryonic stage. This mutation corresponds to an abnormally long repetition of the glutamine (CAG trinucleotide) of the gene coding for the protein called Huntingtin. This protein is present in every cell and has several functions, notably in the transport of molecules and vesicles in the cell, in endocytosis, or during mitosis and neurogenesis.

The people who contract the disease are the victims of choreas (uncontrolled movements). At the same time the disease generates a loss of intellectual faculties leading progressively to dementia. It leads inevitably to death after twenty years, often due to heart failure or suffocation, the patient being unable to control swallowing anymore.

Huntington’s chorea, previously known as St Vitus dance, was described in a precise manner for the first time in 1872 by George Huntingdon. It affects on average 1 person in 10,000, even if there are areas where it manifests itself with greater frequency, notably in Venezuela.