Can you get tested for Huntington's disease

Clinic for Neurology and Neurophysiology

Causes and inheritance

Huntington's disease is genetic (hereditary) disease. That means: it can be passed on from one generation to the next. In 1993, scientists discovered the gene that contained the Huntington's Disease caused, identified.

Genes consist of a long chain of chemical building blocks. There are too many of these building blocks in Huntington's disease sufferers, namely the CAG building block, at a specific point on chromosome four. The protein that is encoded by this gene doesn't work properly and eventually leads to symptoms of Huntington's disease. Although there are two copies of each gene in every cell in the body, one mutated (changed) or extended gene is enough to cause Huntington's disease.

Each child of a parent with the HD gene has a 50:50 chance of inheriting the mutated gene. If a child inherits the mutated gene, they will eventually develop the disease. This usually only happens in the Adulthood. If a child does not inherit the HD gene, neither they nor their children will get the disease: Huntington's disease does not skip generations.

In Europe it is assumed that there are 6 to 12 people affected per 100,000 inhabitants. In Germany, it is estimated that around 10,000 people are affected by Huntington's disease and another 50,000 who are at risk of inheriting the disease because one parent is (or was) affected by Huntington's disease (in North America it is around 30,000 Sick people and another 150,000 so-called risk persons). For most of those affected, the disease occurs in middle adulthood on, however, in 10% of the disease outbreak occurs before the age of 20 (juvenile Huntington's disease), with a further 10% after the age of 55. Men and women alike can inherit the gene and thus develop the disease. HD occurs in all ethnic groups but is most prevalent among the European population. In about 5 to 10% of HD gene carriers, spontaneous mutations are responsible for the gene change.