Dijagnostički i prognostički markeri ranog otkrivanja demencija

master's thesis

• Title (english): Diagnostic and prognostic markers of early dementia detection
• Author: Tomislava Mrgan
• Mentor: Marina Boban (mentor)
• Committee member: Srđana Telarović (predsjednik povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Committee member: Marina Boban (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Sindrom demencije obuhvaća heterogenu grupu različitih poremećaja kod kojih
dolazi do progresivnog i značajnog pada kognitivnih funkcija, a u svijetu se dijagnosticira
svake 3 sekunde. Najčešća demencija je u sklopu Alzheimerove bolesti (AB), a osim nje se
među češćima javljaju frontotemporalna demencija, demencija s Lewyjevim tjelešcima i
vaskularni kognitivni poremećaj. Dijagnoza demencije postavlja se na temelju detaljne
(hetero)anamneze, fizikalnog pregleda, ispitivanja kognitivnih funkcija te upotrebe slikovnih
metoda i biokemijskih markera (biomarkera).
Među biomarkerima najbolje su istraženi likvorski biomarkeri u dijagnostici
Alzheimerove bolesti. Najznačajniji biomarkeri su markeri amiloid-β (Aβ) patologije (npr.
Aβ42), te markeri tau patologije (npr. ukupni i fosforilirani tau proteini). Navedene skupine
likvorskih biomarkera već se koriste u dijagnostici Alzheimerove bolesti. Osim Aβ i tau
markera, u dijagnostici Alzheimerove bolesti još se istražuju i markeri sinaptičke disfunkcije
(npr. neurogranin) i markeri neuronalne ozljede. Likvorski biomarkeri u sklopu drugih
demencija se još uvijek većinom koriste u sklopu istraživačkog rada. Osim likvorskih
biomarkera, sve veća pažnja pridaje se biomarkerima u plazmi i drugim tjelesnim
tekućinama radi lakše dostupnosti i minimalne invazivnosti pri uzimanju uzorka.
Biomarkeri koji imaju visoku osjetljivost i specifičnost omogućavaju ranu i točnu
dijagnostiku demencije te je njima moguće pratiti progresiju bolesti i odgovor na terapiju.

Abstract (english)

Dementia is a syndrome that includes a group of disorders characterized by a
progressive and significant decline in cognitive function. In the world, it is diagnosed every 3
seconds. The most common dementia is Alzheimer’s dementia, followed by frontotemporal
dementia, Lewy body dementia, and vascular cognitive impairment. Diagnosis is based on a
thorough history of the disease taken from the patient and close informant, physical and
cognitive performance examination, and imaging and biomarker tests.
The most studied biomarkers for dementia are cerebrospinal fluid biomarkers (CSF)
used in the diagnosis of Alzheimer's disease. The most important are amyloid-β (Aβ)
pathology biomarkers (e.g. amyloid β42), and tau pathology biomarkers (e.g. total and
phosphorylated tau proteins). Both groups of biomarkers are already included in the
diagnostic algorithm for Alzheimer's disease. In addition to Aβ and tau markers, synaptic
dysfunction biomarkers (e.g. neurogranin), and neuronal damage biomarkers are also being
studied in Alzheimer’s disease. CSF biomarkers in other dementias are still mostly used in
research studies. Today, increased attention is given to biomarkers in plasma and other body
fluids due to better accessibility and minimal invasiveness of sampling.
Biomarkers with high sensitivities and specificities enable accurate and early
diagnosis of dementia, as well as monitoring of disease progression and response to the
therapy.

• Keywords: biomarkeri; cerebrospinalna tekućina; demencija; dijagnoza; plazma; prognoza
• Keywords (english): biomarkers; cerebrospinal fluid; dementia; diagnosis; plasma; prognosis
• Language: croatian
• URN:NBN: urn:nbn:hr:105:671770
• 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: 2023-01-26 08:11:33