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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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