Abstract
Huntington's disease (HD) is a chronic neurodegenerative disorder for which there is no causal treatment yet. The phenotype consists of chorea and dystonia, coordination deficits, behavioural symptoms, and cognitive decline. In most patients, HD starts during mid-life. However, HD can also manifest in children and old age. A CAG repeat expansion on chromosome 4 leads to an expanded polyglutamine stretch in the N-terminus of the huntingtin protein conferring a toxic gain of function. Animal models help to understand the pathophysiology and to develop potential treatments. At present, there is only symptomatic treatment and careful counselling.
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