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Functional and Pathophysiological-morphological Correlates of Neurodegenerative Diseases
Dušek, Pavel ; Roth, Jan (advisor) ; Baláž, Marek (referee) ; Menšíková, Kateřina (referee)
This doctoral thesis pictures neurodegenerative diseases as a multilevel process, describes various correlates on each pathophysiological level, and presents selected correlates in Huntington's disease and mitochondrial membrane protein-associated neurodegeneration (MPAN). It uses various methodological approaches such as basic laboratory research, clinical work, imaging, database formation, and database summary. Changes in the amount of respiratory chain complex I and respiratory chain complex IV in buccal ep- ithelial cells of Huntington's disease patients are described. The insufficient power of optical coherence tomography as a biomarker in Huntington's disease is demonstrated. Various phenotypes of MPAN are summarized, and an association between C19orf12 mutation and visual impairment is confirmed. A phenotype of a well-documented case of MPAN is presented. Keywords: C19orf12 mutation; color discrimination; contrast sensitivity; huntingtin; Huntington's disease; iron accumulation; mitochondrial membrane-protein associated neurodegeneration; multilevel process; neurodegeneration; optical coherence tomogra- phy; parkinsonism; respiratory chain complex; retinal nerve fiber layer thickness
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Sensory and sensitive dysfunctions in neurodegenerative disorders of the basal ganglia.
Kopal, Aleš ; Roth, Jan (advisor) ; Baláž, Marek (referee) ; Laczó, Jan (referee)
Complex functions of the basal ganglia are affected by numerous sensory and sensitive stimuli. In our studies, we investigated parameters of sense of smell and vision in neurodegenerative diseases of the basal ganglia - Parkinson's disease (PD) and Huntington's disease (HD). In the first study, we use Odourized Markers Test (OMT) to determine its applicability in PD patients, and to determine whether it distinguishes olfactory disorders between neurodegenerative and other disorders. Results show that OMT is applicable for PD patients and comparable to Sniffin' Sticks as it demonstrates gains of lower scores in PD patients compared to healthy subjects, but they do not differentiate other etiology of olfactory disorders. In the next study, we tested the pleasantness of odor stimulants in PD patients using New test of odor pleasantness (NTOP). We investigated suitability and validity of its use. We found that PD patients had lower odor rating score compared to healthy group correlated with Sniffin' Sticks and OMT. In the following study, we examined whether PD patients with visual hallucinations (PDH+) have structural retinal changes measured by optical coherence tomography (OCT) and functional retinal changes examined by 2,5% contrast sensitivity test compared to PD patients without hallucinations...
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