Multisustavna atrofija

master's thesis

• Title (english): Multiple system atrophy
• Author: Daniela Todorić
• Mentor: Srđana Telarović (mentor)
• Committee member: Zdravka Poljaković-Skurić (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: 2020-07-17, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Multisustavna atrofija (MSA) progresivna je neurološka bolest koja se odlikuje različitim simptomima te različitim kliničkim slikama, što je tijekom povijesti otežavalo njeno ispravno dijagnosticiranje i definiranje. Jednako pogađa oba spola, a prosječna dob pojavljivanja prvih simptoma obično je u šestom desetljeću života. Razlikujemo dva podtipa bolesti. U MSA-C podtipu pronalazimo olivopontocerebelarnu atrofiju koja zahvaća donju olivarnu jezgru, pons i mali mozak, a u podtipu MSA-P strijatonigralnu degeneraciju u koju su uključeni substantia nigra, putamen, nucleus caudatus i globus pallidus. Zajedničko im je obilježje postojanje glijalnih citoplazmatskih inkluzijskih tjelešaca (GCI) koja su specifična za MSA, a sadrže α-sinuklein. Bolest se očituje parkinsonizmom, cerebelarnim poremećajima (cerebelarnim sindromom), poremećajima autonomnog živčanog sustava te piramidnim simptomima. Dijagnoza se postavlja na temelju anamneze i kliničke slike, a pomoću dijagnostičkih kriterija dogovorenih 2007. godine koji se koriste i danas širom svijeta. MSA je neizlječiva bolest, što znači da zasad ne postoji nikakva kurativna terapija, već se liječenje oslanja na simptomatsku terapiju koja nije specifična za MSA. Kako bi liječenje bilo što uspješnije, potreban je multidisciplinaran holistički pristup bolesnicima s naglaskom na ulozi neurologa. Prognoza bolesti je loša. Preživljenje bolesnika obično se kreće između 6 do 10 godina od trenutka pojave prvih simptoma. Većina bolesnika umire od iznenadne smrti (obično noću) te plućnih ili urinarnih infekcija.

Abstract (english)

Multiple system atrophy (MSA) is a progressive neurological disorder, characterized by various symptoms and diverse clinical presentation. Consequently, it was historically poorly defined and often misdiagnosed. Both sexes are equally affected, and the initial symptoms most commonly occur in the sixth decade of life. Clinicians differentiate two subtypes of this disease. Olivopontocerebellar atrophy, which affects the inferior olivary nucleus, pons and cerebellum, is a typical finding in MSA-C subtype, whilst MSA-P subtype includes striatonigral degeneration, involving substantia nigra, putamen, nucleus caudatus and globus pallidus. Both subtypes have the presence of glial cytoplasmic inclusion bodies (GCIs) which are specific for MSA and composed of α-synuclein. Clinically, patients usually present with parkinsonism, cerebellar disorders (cerebellar syndrome), autonomic nervous system disorders and pyramid symptoms. The diagnosis is made based on patient's history and clinical presentation, by widely used diagnostic criteria established in 2007. MSA is currently an incurable disease. The only therapy is symptomatic and completely nonspecific. Optimal treatment requires a multidisciplinary, holistic approach, with an emphasis on the role of a neurologist. MSA has a poor prognosis, with mean survival between 6 to 10 years. Most of the patients die of a sudden death (usually during the night) or due to pulmonary and urinary tract infections.

• Keywords: α-sinuklein; autonomni živčani sustav; cerebelarni sindrom; multisustavna atrofija; olivopontocerebelarna atrofija; parkinsonizam; strijatonigralna degeneracija
• Keywords (english): α-synuclein; autonomic nervous system; cerebellar syndrome; multiple system atrophy; olivopontocerebellar atrophy; parkinsonism; striatonigral degeneration
• Language: croatian
• URN:NBN: urn:nbn:hr:105:635231
• 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: 2021-09-14 07:34:28