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Clinical symptomatology of Huntington disease

Publikace na 1. lékařská fakulta |
2019

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

Huntington's Disease (HN) is an autosomal dominant hereditary neuropsychiatric disease with a fatal course. The main clinical manifestations are motive symptoms (mainly choreatic dyskinesia and disturbances of free movement) and changes in the psyche (especially cognitive deterioration and behavioral disorders).

The essence of the mutation is the expansion of a triplet containing cytosine-adenine-guanine (CAG) with a critical limit of 39 and more repeats on the short arm. 4. chromosome. The typical onset of HN is in the 4th decade, but there are relatively rare juvenile forms of HN and late-onset HN forms