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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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The role of mitochondria in the pathogenesis of Huntington's disease
Řeháková, Kateřina ; Hansíková, Hana (advisor) ; Kohoutová, Michaela (referee)
Huntington's disease is a neurodegenerative disease affecting the nervous system. It is caused by the mutation of the huntingtin protein coding gene. The mutation is manifested by the multiplication of CAG triplets. Huntingtin is present more in the cytoplasm. It interacts with many proteins and has roles also in transcription and cell transport. Huntingtin also participates in correct regulation of embryonic development and development of nerve tissue. Mutant huntingtin causes oxidative stress, mitochondrial biogenesis and OXPHOS disorders. Diagnosis of Huntington's disease is based on a laboratory examination of the presence of an allele predisposing to the disease. Clinical imaging is also an important part of diagnostics. The patient exhibits uncontrollable choreatic body movements and dementia. The aim of the thesis was to describe the main characteristics of Huntington's disease with the focus of HD on mitochondrial energy metabolism. In the practical part, the aim was to analyze mitochondrial respiration by high resolution polarography in a set of 3 fibroblast lines from patients with Huntington's disease. Polarographic analyses showed that respiration of HD fibroblasts was decreased in comparison with controls. We found that complex II of oxidative phosphorylation was most affected in HD...
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The Role of the Occupational Therapist in the Treatment of Patients with Huntington's Disease
Sýkorová, Jitka ; Čábelková, Alžběta (advisor) ; Dlouhá Maršálková, Alexandra (referee)
The Role of the Occupational Therapist in the Treatment of Patients with Huntington's Disease Abstract: This thesis is focused on the possible potential of occupational therapy in patients with Huntington's disease, a neurodegenerative brain disease. Currently, Huntington's disease is incurable, but there are some therapeutic methods and approaches which have positive influence on a progress of the disease. Also, early intervention of occupational therapy is needed and the occupational therapist is an irreplaceable specialist as a part of an interdisciplinary team. However, in the Czech Republic there is a little experience with occupational therapy in patients with Huntington's disease. The thesis consists of a theoretical part and a practical part. The theoretical part provides basic information about the condition and by having used specialized foreign literature it also focuses on the opportunities and goals of occupational therapy in patients with Huntington's disease. In the practical part, questionnaires which were distributed among patients and patient care providers were evaluated. Results of the questionnaires provide besides other things a brief outline of patient's problematic areas. Occupational therapy evaluation of patients with Huntington's disease includes the Montreal Cognitive Assessment...
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The role of nitric oxide in the patophysiology of neurodegenerative diseases
Matušková, Hana ; Otáhal, Jakub (advisor) ; Alánová, Petra (referee)
The bachelor thesis deals with the importance of nitric oxide in the development of neurodegenerative diseases. Nitric oxide is a biological active gas which affects, among other things, many functions of the central nervous system. Its activity is dependent on the concentration in small amounts has a positive effect, while overproduction contributes significantly to the development of neurodegenerative diseases. In my work, I deal with the negative influence of nitric oxide in the development of epileptic seizures, Parkinson's disease, Alzheimer's disease and Huntington's disease. In conclusion, I mentioned the possibility of determining the amount of nitric oxide concentration. Keywords Nitric oxide, ROS, RNS, neurodegenerative diseases, epileptic seizures, Parkinson's disease, Alzheimer's disease, Huntington's disease
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Psychosocial Aspects of Huntington's Disease
Uhrová, Tereza ; Roth, Jan (advisor) ; Zvolský, Petr (referee) ; Benetin, Ján (referee)
Huntington's disease (HD) is an autosomal dominant inherited neuro-psychiatric disease with usual onset in the middle age. The mutation, located on the short shoulder of chromosome 4, is an expansion of a nucleotide triplet, containing cytosine, adenine, guanine (CAG), with critical limit of 40+ repetitions. The principal symptoms include motor symptoms (chorea, dystonia, disorders of voluntary movements), progressive cognitive deterioration and neuropsychiatric symptoms (behaviour disorders, affective symptoms and so on). The clinical diagnosis is confirmed by a genetic test, which may also be carried out presymptomatically in offsprings of the diseased person. The objective of the 1st study consisted in the characterization of differences in psychiatric examination and neuropsychological testing among the people at risk (PAR), in whom it was recommended to delay the test, and people at risk, who were recommended to continue in the so-called predictive protocol. The total of 52 people have been examined (32 females, 20 males). In addition to the common psychiatric examination we have also administered the Eysenck Personality Questionnaire (EPQ-A), self-rating scale of general psychopathology (SCL- 90), three short cognitive tests - Trail making test, test of Verbal fluency and...
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