Huntingtonova bolest

Huntingtnova bolest je progresivna, autosomno dominantna neurodegenerativna bolest. Karakteristika bolesti je poremećaj u ponašanju, motorici i kognitivnim funkcijama. Više od 40 ponavljanja poliglutamina u kodirajućem slijedu huntingtin gena na p kraku četvrtog kromosoma uzrokuje Huntingtonovu bolest. Bolest je karakterizirana brzim, nekontroliranim, bezvoljnim i nesvrsishodnim pokretima. Simptomi se uglavnom prvi put pojave u srednjim godinama života, međutim 6% pacijenata razvije juvenilni oblik Huntongtonove bolesti. Depresija sa suicidalnom sklonošću, agresivnim ponašanjem i psihozom su istaknute značajke bolesti. Na Huntingtonovu bolest posumnjamo kada je prisutna koreja sa pozitivnom obiteljskom anamnezom. Progresijom bolesti javlja se generalni gubitak neurona unutar nekoliko regija mozga, poput kore velikog mozga, globus palidus, nukleus subthalamikus, substancia nigra, mali mozak i talamus. Dijagnoza se potvrđuje na temelu genetičkog testiranja i kliničke slike. Ne postoji specifično liječenje da spriječi progresiju bolesti.Huntington's disease is a progressive, autosomal dominant neurodegenerative disease. Increased number more then 40 number of polyglutamine repeats in codin sequence of the huntingtin gene on cromosome four . It is caracterised by disturbance in behavour, motorics and cognition. The disaease is caracterised by uncontroled, rapid and purposeless movements. The symptoms first appear in midlife, however 6% of patients develop juvenile Huntington's disease. The prominent features of the disease are depression with suicidal tendency, agressive behavour and psychosis. If the disease is manifested with corea and is present in family, then we suspect on Huntington's disease. With progerssion of the disease, there is a general neuron loss in several regions of the brain, such as cortex, globus pallidus, nucleus subthalamicus, substantia nigra, cerebellum and thalamus. The diagnosis is confirmed based on simptoms and genetic testing. There is no speciffic treatment to stop the progression of the disease