Huntington??s Disease

Abstract

Huntington’s disease is an autosomal dominant hereditary neurodegenerative disorder characterised by chorea, disturbed voluntary motor performance, behavioural changes and dementia. Despite the recent discovery of the gene defect (an expanded trinucleotide repeat) and its product huntingtin, no curative therapy is available to date. Confronted with genetically determined inevitable functional decline, psychosocial support remains the hallmark in the care for patients and relatives. Pharmacological treatment is limited to reduction of chorea and behavioural disturbances, often at the cost of further impairing voluntary movement and, consequently, functional capacity. Therefore, drug therapy should be highly individualised and generally restricted to patients with severely disabling symptoms.