Progresivna supranuklearna paraliza

master's thesis

• Title (english): Progressive Supranuclear Palsy
• Author: Tea Pavičić
• Mentor: Srđana Telarović (mentor)
• Committee member: Zdravka Poljaković (predsjednik povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Committee member: Srđana Telarović (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2024-09-11, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Progresivna supranuklearna paraliza (PSP) sporadična je neurodegenerativna bolest čiji je uzrok nepoznat. Međutim, posljednjih godina pri praćenju njene rastuće incidencije i prevalencije je uočena povezanost s određenim okolišnim čimbenicima i genetskom predispozicijom. Uočeno je da određeni oblici mogu biti genetski povezani s mutacijama u genima za protein tau povezan s mikrotubulima (engl.microtubule-associated protein tau - MAPT), koji kodira tau protein ili genima koji su povezani s drugim neurodegenerativnim bolestima. Ovi genetski oblici PSP-a su iznimno rijetki i ne čine većinu slučajeva bolesti. Karakteristična je za stariju životnu dob te se obično javlja u šestom desetljeću života. Fenotipska prezentacija bolesti razlikuje se među bolesnicima ovisno o tome koji dio mozga je patološki zahvaćen što može otežati njenu dijagnozu. U svrhu olakšavanja dijagnoze iste razvijena je podjela u podtipove, kao i činjenica što je relativno rijetka bolest čiji varirajući simptomi mogu podsjećati na druge neurodegenerativne bolesti. Iako se definitivna dijagnoza donosi na temelju neuropatološkog pregleda nakon smrti pacijenta, tokom života ključnu ulogu ima MRI (engl.magnetic resonance imaging) mozga kao neinvazivna dijagnostička metoda te neurološki klinički pregled i opširno uzeta anamneza pacijenta. Iako za samu bolest ne postoji lijek, postoji niz lijekova koji se daju u svrhu simptomatskog liječenja radi olakšavanja fizičkih i psihičkih tegoba s kojima se bolesnici suočavaju. U tijeku su istraživanja potencijalno učinkovite imunološke i ostale terapije.

Abstract (english)

Progressive Supranuclear Palsy (PSP) is a sporadic neurodegenerative disease of unknown cause, However, in recent years monitoring of its increasing incidence and prevalence has revealed associations with specific environmental factors and genetic predisposition. Certain forms of PSP have been observed to be genetically linked to mutations in the MAPT gene (microtubule-associated protein tau) ,which encodes tau protein or genes associated with other neurodegenerative diseases. These genetic forms of PSP are exceptionally rare and do not constitute the majority of cases of the disease. It is characteristic of older age and typically manifests in the sixth decade of life. The phenotypic presentation of the disease varies among patients depending on which part of the brain is pathologically affected, which can complicate its diagnosis. In order to facilitate the diagnosis, PSP has been classified into subtypes, given its rarity and variable symptoms that may resemble other neurodegenerative diseases. While a definitive diagnosis is established through neuropathological examination after the patient's death, MRI (magnetic resonance imaging) plays a crucial role during life as a non-invasive diagnostic method, alongside neurological clinical examination and comprehensive patient history. Even though there is currently no cure for the disease, there are several medications used for symptomatic treatment to alleviate the physical and psychological challenges faced by patients. Research is ongoing into potentially effective immunological and other therapies.

• Keywords: progresivna supranuklearna paraliza; atipični parkinsonizam; taupatija
• Keywords (english): progressive supranuclear palsy; atypical parkinsonism; tauopathy
• Language: croatian
• URN:NBN: urn:nbn:hr:105:604730
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-07-16 10:53:25