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Genetics and phenotypic characteristics of early-onset Parkinson's disease
Fiala, Ondřej ; Růžička, Evžen (advisor) ; Seeman, Pavel (referee) ; Bojar, Martin (referee)
Objective: Mutations in the parkin (PARK2) gene have been associated with autosomal recessive early-onset Parkinson's disease (EOPD) with various frequencies in different populations. The aim of the study is to describe phenotypic characteristics of Czech EOPD patients, to evaluate the influence of environmental risk factors, and to determine the frequency of parkin allelic variants in patients and healthy controls. Methods: A total of 70 EOPD patients (age at onset ≤ 40 years) and 75 controls were phenotyped and screened for the sequence variants and exon rearrangements in the parkin gene. Results: The main features in the phenotype of the patients' sample were: the absence of cognitive deficit, high occurrence of dystonia, depression, hyperhidrosis, an excellent response to dopaminergic therapy, early onset of dyskinesia and motor fluctuation. Patients with mutations in the parkin gene had significantly lower age at onset. The agricultural occupation and work with chemicals increased the risk of EOPD, however the coffee drinking appeared to be a protective factor. Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous...
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Cognitive Impairment in Parkinson's Disease
Bezdíček, Ondřej ; Růžička, Evžen (advisor) ; Papežová, Hana (referee) ; Hort, Jakub (referee)
Cognitive impairment is considered as essential feature of non-motor symptoms in Parkinson's disease (PD). It is a result of underlying pathological processes in the brain of PD patients and it leads to decreased quality of life. In this thesis an analysis of the structure and profile of cognitive impairment is presented with special emphasis on executive functions and memory. We take diagnostic entities developed for the description of PD cognitive spectrum such as mild cognitive impairment (PD-MCI) and dementia (PD-D) as examples of heterogeneity and different severity of cognitive impairment in PD. However, neuropsychological methods in Czech version that would measure these diagnotic units were not adequatly validated. In the experimental part we test a hypothesis, if gait disorder with falls in PD is interconnected with cognitive impairment, and if PD-fallers have more severe cognitive deficit than PD-non-fallers. On the basis of nine validity or normative data studies we show psychometric properties and clinical utility of several basic neuropsychological methods in the Czech population for memory (Rey Auditory Verbal Learning Test, California Verbal Learning Test, Second Edition, Memory For Intentions Screening Test and Enhanced Cued Recall Test), sustained attention and executive functions...
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The effects of deep brain stimulation of the subthalamic nucleus on emotional and motivational processing in Parkinson's disease patients
Serranová, Tereza ; Růžička, Evžen (advisor) ; Horáček, Jiří (referee) ; Mareš, Jan (referee)
Summary: The mechanisms of weight gain or behavioral and affective changes known to occur in patients with Parkinson's disease (PD) treated with deep brain stimulation of the subthalamic nucleus (STN DBS) are incompletely understood. We hypothesize that some of these non-motor side-effects may be related to changes in motivational processing due to STN DBS. Motivational processing to appetitive and aversive stimuli can be assessed using subjective evaluation of emotional relevance (i.e. incentive salience attribution) or affective modulation of the auditory blink reflex (ABR). The latter provides an objective measure of changes in emotional reactivity: ABRs are physiologically potentiated by unpleasant and inhibited by pleasant stimuli, reflecting activation of the aversive and appetitive motivational systems. Our aim was to assess the effects of STN DBS on motivational processing of pictures from 4 categories, two representing primary rewards, erotica and food, one aversive fearful and one neutral, using the subjective evaluation of motivational relevance (Study 1.) and the modulation of the ABR reactivity (Study 2.) in off-medicated PD patients with DBS switched ON and OFF. The results were compared with those obtained in healthy controls using the same paradigms. Study 1. Twenty PD patients in bilateral...
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název v anglickém jazyce není uveden
Ulmanová, Olga ; Růžička, Evžen (advisor) ; Bojar, Martin (referee) ; Stančák, Andrej (referee)
Essential tremor (ET) is probably the most common movement disorder with prevalence quoted as ranging in various populations from 0,41 to 3,92% (Louis et al 1998). Despite often given the prefix "benign", many patients are seriously physically, socially or psychologically handicapped. There are sporadic and familial forms with autosomal dominant inheritance with high penetrance. The percentage of patients with a positive family history ranges from 17 to 100%. Etiology and pathogenesis of ET are unknown. Electrophysiological studies have shown the central source of tremorogenic oscillation, the cerebellum and inferior olive are implicated by positron emission tomography studies. Autopsy studies reveal no gross or microscopic abnormalities (Deuschl and Elble 2000). Essential tremor had been for a long time one of the diseases that were not at a primary focus of neurological research (Deuschl and Koller 2000). Now, with the rapid progress of genetic research, the first genes related to ET have been identified (Gulcher et al 1997, Higgins et al 1997). ET is probably not a single disease; several genetic abnormalities appear to exist (Illarioshkin et al 2000, Abbruzzese et al 2001, Kovach et al 2001). High-quality epidemiological studies are needed for the search for genetic abnormalities (Elble 2000). The...
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