Huntingtonova bolest [Huntington's disease]

Pogledić, Ivana and Relja, Maja (2012) Huntingtonova bolest [Huntington's disease]. Liječnički vjesnik, 134 (11-12). pp. 346-350. ISSN 0024-3477

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Abstract

Huntington's disease and/or chorea (HD) is autosomal dominant neurodegenerative disease that never skips generations. The first description was provided by George Huntington in the year 1872. Its prevalence in the world is 8-10 per 100000 inhabitants and in Croatia 4.46 per 100 000 inhabitants. It starts between 30 and 50 years of age and ends after 15-20 years with death. It is a disease of CAG triplet repeats and is characterized by poliglutamine repeats. The number of CAG trinucleotid repeats correlates with the age of the onset of the first symptoms, as well as with the clinical picture. The selective therapy for Huntington's chorea still does not exists and for symptomatic treatment the blockers of dopamine have turned out to be the most useful.

Abstract in Croatian

Huntingtonova bolest i/ili koreja (HD) autosomno je dominantna neurodegenerativna bolest koja nikada ne preskače generacije. Prvi ju je opisao George Huntington 1872. godine. Prevalencija u svijetu je 8–10 na 100 000 stanovnika, dok je u nas objavljeno 4,46 na 100 000 stanovnika. Započinje uglavnom između 30. i 50. godine života i završava smrtno za 15–20 godina. Bolest je to ponavljanja tripleta CAG, a karakterizira ju ekspanzija poliglutaminskog slijeda. Broj trinukleotidnih CAG-ponavljanja negativno korelira s dobi javljanja prvih simptoma, kao i s težinom kliničke slike. Za sada ne postoji selektivna terapija Huntingtonove koreje, a kao simptomatsko liječenje najdjelotvorniji su blokatori dopamina.

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