Access restricted to higher education institution's students and staff
master's thesis
Huntingtonova bolest

Ana Jakovac (2016)
Metadata
TitleHuntingtonova bolest
AuthorAna Jakovac
Mentor(s)Olivio Perković (thesis advisor)
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.
KeywordsHuntington's disease corea genetic testing huntingtin gene
Committee MembersIgor Antončić (committee chairperson)
Lidija Tuškan-Mohar (committee member)
Radan Starčević (committee member)
GranterSveučilište u Rijeci
Medicinski fakultet
Lower level organizational unitsKatedra za neurologiju
PlaceRijeka
StateCroatia
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Study programme typeuniversity
Study levelintegrated undergraduate and graduate
Study programmeMedicine
Academic title abbreviationdr. med.
Genremaster's thesis
Language Croatian
Defense date2016-07-15
Parallel 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.
Parallel keywords (Croatian)Huntingtonova bolest koreja genetičko testiranje huntingtin gen
Resource typetext
Access conditionAccess restricted to higher education institution's students and staff
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:672941
CommitterBosa Licul