National Repository of Grey Literature 14 records found  1 - 10next  jump to record: Search took 0.00 seconds. 
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...
The Utility of Spatial Navigation and Metabolic Biomarkers in Early and Differential Diagnosis of Neurodegenerative Diseases
Cerman, Jiří ; Laczó, Jan (advisor) ; Roth, Jan (referee) ; Kopeček, Miloslav (referee)
Alzheimer's disease (AD) is the most common neurodegenerative disease leading to dementia and represents a significant socio-economic problem. Currently, only symptomatic treatment of AD is possible and the development of new causal therapy faces a number of difficulties, which are inter alia related to identifying early stages and the possibilities of differential diagnosis of specific neurodegenerative diseases. Therefore, in recent years, methods that are easily available and able to reliably identify individuals at risk of developing AD already at preclinical and prodromal stages are of particular interest. The work presents a basic overview of the current knowledge about neurodegenerative diseases and especially AD and extends the knowledge in this area. The main goals of the thesis are to map out the potential contribution of spatial navigation testing as a new experimental method, which is suitable for early diagnosis and differential diagnosis of advanced stages of neurodegenerative diseases, and to evaluate the benefits of metabolic biomarker testing in clinical practice. In the early stages of neurodegenerative diseases, the work focuses primarily on the evaluation of impairment of a specific type of spatial navigation - path integration in patients with AD and also on subjective spatial...
The Application of Massively Parallel Next Generation Sequencing Technologies for Diagnosis of Hereditary Spastic Paraplegia: A Contribution to the Development of DNA Diagnosis of a Highly Heterogeneous Disease
Uhrová Mészárosová, Anna ; Seeman, Pavel (advisor) ; Roth, Jan (referee) ; Janíková, Mária (referee)
Doctoral thesis Anna Uhrová Mészárosová, MSc. The Application of Massively Parallel Next Generation Sequencing Technologies for Diagnosis of Hereditary Spastic Paraplegia: A Contribution to the Development of DNA Diagnosis of a Highly Heterogeneous Disease. Prague, 2018 Abstract The aim of this work is to map the genetical spectrum of hereditary spastic paraplegia in Czech patients. Hereditary spastic paraplegia (HSP) is an inherited neurological disorder, clinically characterized by progressive weakness and spasticity of the lower limbs leading to problems with gait and can cause the complete loss of the ability to walk. HSP is clinically and genetically very heterogenous; more than 90 HSP types and pathogenic variants in more than 70 genes have been described to date. HSP manifests as an uncomplicated (pure) form in the majority of HSP patients. Less often it manifests as a complicated phenotype with the associated clinical signs (mental impairment, epilepsy, ataxia, atrophy of the optic nerve). We performed massively parallel sequencing (MPS) of uncomplicated HSP gene panel in a group of 96 Czech patients with suspected uncomplicated type of HSP. In all patients the most common HSP type SPG4 was previously excluded. HaloPlex Target Enrichment kit and SureSelect Target Enrichment kit (both Agilent...
Phenotypic study Huntington's disease TgHD minipigs: Appearance and progress of reproductive and biochemical changes
Bohuslavová, Božena ; Motlík, Jan (advisor) ; Roth, Jan (referee) ; Petr, Jaroslav (referee) ; Krylov, Vladimír (referee)
Huntington's disease (HD) is one of the incurable and fatal diseases. HD belongs to the monogenic neurodegenerative diseases. According to the number of the CAG repetitions in the gene coding huntingtin, the onset of the disease is in childhood (5%), in the middle age, which is the most common (90%) and in the older age (5%). Beginning of the disease is manifested by changes in behavior; including problems with coordination and movement. Later, there is a psychological change. The disease leads to death. Until now, there is no effective curative treatment. In 2009, we created a model of the transgenic minipigs (TgHD) carrying the N - terminal part of the human mutant huntingtin (mtHtt) at our Institute in Liběchov. The number of offsprings and the resemblance in physiology and morphology between the pig (Sus scrofa) and humans (Homo sapiens) give us opportunities not only to study changes not only in central nerve organs, but also in peripheral tissues. The reproductive problems of TgHD boars were observed as the first phenotypic changes. Therefore, my work focuses at first on a study of the reproduction parameters of TgHD boars as well as ultrastructural, immunocytochemical and biochemical changes in testes and spermatozoa. In PhD thesis, I described in details the reproductive defects in TgHD...
Neuropsychological aspects of preclinical stages of neurodegenerative diseases
Nikolai, Tomáš ; Roth, Jan (advisor) ; Holmerová, Iva (referee) ; Jirák, Roman (referee)
Neuropsychological aspects of preclinical stages of neurodegenerative diseases are an extensively studied topic in neuropsychological research. Neuropsychological assessment can be helpful for the estimation of conversion risk in individual cases. The focus of neuropsychological research shifted from the evaluation of dementia to mild cognitive impairment (MCI) or even to the detection of cognitive change before significant cognitive decline. In the theoretical part is presented a contemporary outline of preclinical stages of neurodegenerative diseases. The construct of MCI is the most studied topic in the prodromal stage of neurodegeneration and this part is dedicated to comprehensive analysis of MCI. The empirical research includes five studies on screening methods of cognitive abilities, memory and verbal fluency tests. We present normative and validity data in older adults and show their detection potential in MCI or preclinical stages of neurodegenerative diseases. Furthermore, we tried to show the detection potential of different memory measures in patients with MCI and estimate the relations between hippocampal atrophy and memory performance. Key words mild cognitive impairment, dementia syndrome, Alzheimer's Disease, neuropsychological assessment, diagnostic procedures
DNA damage response in Huntington disease
Vachová, Veronika ; Šolc, Petr (advisor) ; Roth, Jan (referee)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, which leads to loss of striatal neurons in basal ganglias. It is characterized by involuntary movements and progressive cognitive impairment. HD is a relatively rare disease and the prevalence is approximately 0,01 % of the population of Western European. HD is caused by a CAG repeat expansion in the huntingtin gene (HTT). This mutation results in an elongated stretch of glutamin. Mutant huntingtin (mHTT) expression leads to accumulation of DNA double-strand breaks (DSB) due to reduced ability of effective reparation, which contributes to the pathogenesis of HD, however this mechanism is not fully understood. There are several angles of view how mHTT impaires DNA damage response (DDR). Some studies say that the expression of the mHTT initiates excessive activation of the DDR including p53 signaling pathway leading to apoptosis. Other studies represent results for dysfunction of non-homologous end joining after recognition of DSB or that the cell is not able to recognize DSB. All theories would explain cell death as a consequence of high level of unrepaired DNA damage. The understanding of these mechanisms is important for the development of therapeutical strategies. Key words: Huntington's disease, huntingtin, DNA...
Pathophysiology of non-motor symptoms in basal ganglia involvement
Majerová, Veronika ; Roth, Jan (advisor) ; Rusina, Robert (referee) ; Papežová, Hana (referee)
The basal ganglia (BG) are a group of brain nuclei situated deep in the cerebral hemispheres. While BG were primarily associated with motor functions, in recent years there has been an increasing evidence that BG are also significantly involved in a wide range of non-motor functions. This work focused on some of the non-motor symptoms associated with two typical basal ganglia disorders: Parkinson's disease (PD) and Huntington's disease (HD). The first study concerned spatial navigation impairment in patients with HD. Their spatial navigation skills were tested using the Blue Velvet Arena, technique evaluating spatial navigation in real space, capable to selectively differentiate between two components of spatial navigation - allocentric (environment-oriented) and egocentric (self-oriented). Allocentric navigation is linked to hippocampal function, whereas egocentric navigation is usually associated with striatum, a structure predominantly affected in HD. We found that spatial navigation is not significantly affected in the early stages of HD and that in more advanced stages, when spatial navigation is already impaired, there is no significant difference between allocentric and egocentric navigation impairment. We speculate that the striatal involvement does not contribute to the impairment of the...
Huntington's disease modeling and stem cell therapy in spinal cord disorders and injury
Hruška-Plocháň, Marián ; Motlík, Jan (advisor) ; Bjarkam, Carsten (referee) ; Roth, Jan (referee)
Neurological disorders affect more than 14% of the population worldwide and together with traumatic brain and spinal cord injuries represent major health, public and economic burden of the society. Incidence of inherited and idiopathic neurodegenerative disorders and acute CNS injuries is growing globally while neuroscience society is being challenged by numerous unanswered questions. Therefore, research of the CNS disorders is essential. Since animal models of the CNS diseases and injuries represent the key step in the conversion of the basic research to the clinics, we focused our work on generation of new animal models and on their use in pre-clinical research. We generated and characterized transgenic minipig model of Huntington's disease (HD) which represents the only successful establishment of a transgenic model of HD in minipig which should be valuable for testing of long term safety of HD therapeutics. Next, we crossed the well characterized R6/2 mouse HD model with the gad mouse model which lacks the expression of UCHL1 which led to results that support the theory of "protective" role of mutant huntingtin aggregates and suggest that UCHL1 function(s) may be affected in HD disturbing certain branches of Ubiquitin Proteasome System. Traumatic spinal cord injury and Amyotrophic Lateral...
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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