Abstract
Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disease with prevalence of 4.1-7.5 per 100 000 people. The mutation (CAG triplet repeat) is located on the 4th chromosome and its product is an aberrant huntingtin protein.
Function of the aberrant huntingtin in the pathophysiology of the disease has not been satisfactorily elucidated yet. First symptoms of HD (motor and mental) appear usually in the fourth decade of life.
The onset of mental symptoms is noncharacteristic, usually nonspecific personality and behavioural changes, followed by affective and cognitive disturbances leading even to the picture of dementia, with possible occurrence of psychotic states. Typical neurological manifestations are disturbances of voluntary movement, choreatic dyskinesias, gait disorder, dysphagia, and dysarthria, less frequently cerebellar or pyramidal symptoms.
The clinical diagnosis is confirmed by a genetic test from the blood. Causal therapy for HD does not exist but many manifestations of the disease can be influenced by properly chosen therapy.
Accompanying affective disturbances can be effectively treated with antidepressants and thymoprophylactics. When psychotic symptoms occur, we proceed according to standard psychiatric procedures used in psychotic disorders; however, some HD symptoms require a highly specific approach.