Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative pathology which was first described in 1872 by the American physician George Huntington, after whom the disease is named.
Unlike other more common brain conditions, HD is inherited. Researchers found the genetic basis of the disease in 1993. HD is caused by a mutation in a gene called huntingtin, which multiplies a part of the gene chain and results in abnormally long protein formations that progressively damages brain cells and leads to dysfunction and death. As the mutated gene is passed from generation to generation, the extension of the gene mutation increases and this often causes an earlier onset of the disease.
Every person has the gene involved. However, only people who inherit the multiplying mutation of the gene will develop HD. The pathology affects men and women in the same proportion. There is evidence of differentiated prevalence among people from different genetic pools. Thus, the disease is more frequent in people of European descent (3 to 7 per 100.000) but is infrequent in individuals from Asia, especially Japanese and Chinese people.
Diagnosis is by genetic testing but there does not exist cure for the disease. HD symptoms usually begin between the ages of 30 and 50. The most common ones include lack of coordination, mood problems, spasmodic body movements, difficulty in swallowing and, eventually, inability to talk and dementia.
Heart disease, pneumonia, and depression further reduce the patients’ quality of life and, eventually, their life expectancy. Treatments can relieve some symptoms but full-time care is necessary as the disease progresses.
Most research efforts have been dedicated to the analysis of the mutant protein. However, recent approaches aim to reconsider the beneficial aspects of hungtintin. Eventually, this could lead to new research and treatment perspectives.