Huntington's disease

Huntington's disease is also referred to as St. Vitus' dance. It is an inherited, chronic progressive disease characterised by neuronal cell death in select areas of the brain.

Genetic causes: In Huntington's disease there is a mutation of the Huntington gene on the short arm of the fourth chromosome (locus 4p16.3). Normally, the triplet of nucleic acids - cytosine, adenine, guanine - repeats 10-35 times in this region. In sufferers of Huntington's disease and healthy carriers of the mutation this region is extended, comprising 36 to well over 100 repetitions. In other words, if there are more than 36 repetitions, this leads to Huntington's disease.
A person suffering from Huntington's disease usually has only one mutated Huntington allele and is therefore also a carrier of an unmodified copy of the gene. The disease is autosomal dominant, meaning that if the person affected by the disease passes on the responsible genetic predisposition to a child, the child will become ill with Huntington's disease in the course of his or her life. Offspring will not become ill only if they inherit the diseased person's unmutated gene. Thus, children in principle have a 50 % chance of inheriting from an affected parent the mutation that leads to disease.

Symptoms: Early symptoms of the disease generally occur between the ages of 35 and 45. The affected individual initial suffers from movement disorders (uncontrollable muscle actions, coordination difficulties). Subsequently, personality changes and dementia also occur. Ten to twenty years after onset of the disease death occurs due to secondary consequences of immobility, general debilitation and malnutrition.

Therapeutic options: There are currently no preventive or therapeutic options that can control the onset or course of the disease.

For further information on Huntington's disease see:

Online Mendelian Inheritance in Men (OMIM). Online Version

International Huntington Association (IHA). Online Version

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