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Kognitivne motnje in druge klinične značilnosti alfasinukleinopatij pri preiskovancih z idiopatsko REM-motnjo spanja : magistrsko delo
ID Ljubič Pavalec, Maja (Author), ID Trošt, Maja (Mentor) More about this mentor... This link opens in a new window, ID Bon, Jurij (Co-mentor)

URLURL - Presentation file, Visit http://pefprints.pef.uni-lj.si/4929/ This link opens in a new window

Abstract
Tema magistrske naloge je zgodnje odkrivanje kognitivnih in drugih kliničnih značilnosti pri bolnikih z motnjo faze spanja REM (angl. REM slep behavior disorder ‒ RBD), ki nosijo visoko tveganje za razvoj katere od alfasinukleinopatij. Te so nevrodegenerativne bolezni možganov, pri katerih se v možganih prekomerno nabira nepravilno agregiran protein alfasinuklein. Najpogostejša alfasinukleinopatija je parkinsonova bolezen (PB). Proces nevrodegeneracije v možganih oseb z alfasinukleinopatijami, med katere sodijo še multipla sistemska atrofija (MSA) in demenca z Lewyjevimi telesci (DLT), poteka že vrsto let pred pojavom kliničnih znakov. Zato so osebe s prodromalnimi znaki nevrodegenerativnih bolezni najprimernejša populacija za raziskovanje potencialnih bioloških označevalcev, ki bi lahko napovedali razvoj bolezni, in raziskovanje potencialnih nevroprotektivnih zdravil. Nekatere biološke označevalce prodromalnih faz bolezni že poznamo: RBD, motnja voha, hiperehogenost substance nigre pri trans-kranialni doplerski preiskavi, noben od njih pa ni bi dober označevalec napredovanja bolezni in ne more napovedati, kdaj se bo bolezen pojavila tudi s kliničnimi znaki. Longitudinalne študije spremljanja bolnikov z RBD predstavljajo osnovo za izboljšanje našega razumevanja temeljnih nevrobioloških mehanizmov, vloge bioloških iznačevalcev oziroma biomarkerjev in faktorjev, ki vplivajo na napredovanje bolezni. V naši pilotski presečni raziskavi, ki bo osnova za prospektivno raziskavo, smo se posebej posvetili motnji kognitivnih funkcij. V raziskavo smo vključili šest bolnikov s polisomnografsko potrjeno RBD, jih klinično nevrološko pregledali in pri njih opravili strukturna ter funkcijska slikanja možganov (magnetno resonančno tomografijo, scintigrafijo dopaminskega prenašalca, slikanje možganske presnove s fluorodeoksiglukozo in pozitronsko emisijsko tomografijo), pregled alfasinukleina v likvorju ter testiranje kognitivnih funkcij s presejalnimi lestvicami in s pomočjo računalniške verzije naloge kognitivnega nadzora. Uporabili smo eksperimentalni način preizkušanja kognitivnih funkcij z uporabo paradigme fleksibilne kognitivne kontrole. Ugotovili smo, da imajo osebe z izolirano RBD prisotne tudi druge znake, ki so znani prodromi PB: motnjo voha, motnjo razpoloženja in spremenjeno možgansko aktivnost, kljub še ohranjeni dopaminergični integriteti (dokazani z normalnim izvidom scintigrafijo dopaminskega prenašalca). Bolniki z RBD so v primerjavi z zdravimi preiskovanci kognitivno upočasnjeni. Ta kognitivna motnja bi lahko postala obetaven biomarker napredovanja bolezni. To bomo raziskali v prospektivnem delu raziskave.

Language:Slovenian
Keywords:motnja faze spanja REM, alfasinukleinopatije, biološki označevalci alfasinukelinopatij, preizkušnja kognitivnega nadzora
Work type:Master's thesis/paper (mb22)
Typology:2.09 - Master's Thesis
Organization:PEF - Faculty of Education
Year:2017
Publisher:[M. Ljubič Pavalec]
Number of pages:X, 58 str.
UDC:616.8-009.836(043.2)
COBISS.SI-ID:11878473 This link opens in a new window
Publication date in RUL:31.01.2018
Views:1181
Downloads:191
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Secondary language

Language:English
Title:Cognitive disorders and other clinical characteristics of alpha-synucleinopathies in subjects with idiopathic REM-sleep behavior disorder
Abstract:
The topic of the master’s thesis is early discovering of cognitive and other clinical characteristics in patients with REM sleep behavior disorder (RBD), who are at high risk of the development of any of alpha-synucleinopathy. These are neurodegenerative brain diseases, where misfolded protein alpha-synuclein aggregation occurs in brain excessively. The most common alpha-synucleinopathy is Parkinson disease (PD). The process of neurodegeneration in brains of persons with alpha-synucleinopathy, among which there is also multiple systemic atrophy (MSA) and Lewy body dementia, occurs many years before the emergence of the clinical signs. Therefore, the persons with prodromal signs of neurodegenerative diseases are the most appropriate population for the research of potential biological markers, which could predict the development of disease, and also for the research of potential neuroprotective medicaments. We already know some biological markers of prodromal phases of diseases: RBD, smell disorder, and the hyperechogenicity of the substantia nigra in the transcranial Doppler investigation. None of these, however, was a good marker of disease progression and cannot predict when the disease is going to emerge with the clinical signs also. Longitudinal studies of monitoring the patients with the RBD represent the basis for improvement of our understanding of the basic neurobiological mechanisms, the role of biological equalizers, i.e. biomarkers, and factors which influence the progression of the disease. In our pilot cross-sectional study, which will be the basis for the prospective study we especially focused on the disorder of cognitive functions. We included six patients with polysomnographically confirmed RBD in the study examined them clinically and neurologically and performed structural and functional brain imaging (magnetic resonance tomography, scintigraphy of dopamine transporter, imaging of brain metabolism using fluorodeoxyglucose, and positron emission tomography), examination of alpha-synuclein in liquor, and testing cognitive functions with screening scales and by means of the computer version of the cognitive control task, are already present in subjects with polysomnographically confirmed RBD. We used the experimental method of testing cognitive functions by using the paradigm of flexible cognitive control. We discovered that the persons with the isolated RBD have also other signs which are known prodromes of the PB: smell disorder, mood disorder, and altered brain activity, in spite of still preserved dopaminergic integrity (proved by a normal report of scintigraphy of dopamine transporter). The patients with the RBD are cognitively decelerated in comparison A Qasyto the healthy subjects. This cognitive disorder could become a promising biomarker of the progression of the disease. This will be researched in the prospective part of the study.

Keywords:sleep, spanje

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