prikaz prve stranice dokumenta Huntingtonova bolest
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master's thesis
Huntingtonova bolest
2016. urn:nbn:hr:184:672941
Jakovac, Ana
University of Rijeka
Faculty of Medicine
Department of Neurology

Cite this document

Jakovac, A. (2016). Huntingtonova bolest (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:672941

Jakovac, Ana. "Huntingtonova bolest." Master's thesis, University of Rijeka, Faculty of Medicine, 2016. https://urn.nsk.hr/urn:nbn:hr:184:672941

Jakovac, Ana. "Huntingtonova bolest." Master's thesis, University of Rijeka, Faculty of Medicine, 2016. https://urn.nsk.hr/urn:nbn:hr:184:672941

Jakovac, A. (2016). 'Huntingtonova bolest', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 25 April 2024, https://urn.nsk.hr/urn:nbn:hr:184:672941

Jakovac A. Huntingtonova bolest [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2016 [cited 2024 April 25] Available at: https://urn.nsk.hr/urn:nbn:hr:184:672941

A. Jakovac, "Huntingtonova bolest", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2016. Available at: https://urn.nsk.hr/urn:nbn:hr:184:672941

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Metadata
TitleHuntingtonova bolest
AuthorAna Jakovac
MentorOlivio Perković (mentor)
Committee memberIgor Antončić (predsjednik povjerenstva)
Committee memberLidija Tuškan-Mohar (član povjerenstva)
Committee memberRadan Starčević (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Neurology)
Rijeka
Defense date and country2016-07-15, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract
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.
Abstract (english)
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.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:672941
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsAccess restricted to students and staff of home institution
Terms of useLicence In copyright icon
Created on2016-10-18 06:41:56