Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 73 for “"Huntington’s Disease"”.
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Presynaptic signalling in Huntington’s disease
Huntington’s disease (HD) is a heritable neurodegenerative disorder caused by a variable repeat expansion of the CAG codon in exon1 of the huntingtin (Htt) gene. This monogenic mutation results in the expression of mutant (m)Htt protein and causes neurodegeneration, principally in the medium spiny …
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Calcium Channel Dysfunction in Huntington’s Disease
<p> Huntington’s disease (HD) is an autosomal dominant degenerative disease that is caused by an expansion mutation in the huntingtin protein that lengthens a naturally occurring trinucleotide CAG repeat in exon 1 resulting in striatal degeneration. The mechanism by which striatal neurons undergo …
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Modelling Huntington’s Disease Using Direct Cell Reprogramming
Huntington’s disease (HD) is a neurodegenerative disorder characterised by the progressive decline of motor, cognitive, and psychiatric functions. HD results from an autosomal dominant mutation that causes a trinucleotide CAG repeat expansion and the production of a mutant Huntingtin protein …
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Social Cognition and Functioning in Huntington’s Disease
Huntington's Disease (HD) is a neurodegenerative disease caused by an expansion mutation in the huntingtin gene. Although it is classified as a movement disorder, other prominent features include early cognitive, behavioural and neuropsychiatric symptoms. These non-motor features have a greater …
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Identification and evaluation of biomarkers for Huntington’s disease
Huntington’s disease (HD) is a devastating, incurable inherited neurodegenerative disorder that commonly affects adults in mid-life. Despite encouraging results from in vitro and animal trials, disease-modifying therapeutic trials in HD are limited by a lack of tools to track disease progression. …
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Identification of cellular signaling events dysregulated in Huntington’s disease.
Huntington’s disease (HD) is a fatal neurodegenerative disorder resulting from a CAG repeat expansion in the first exon of the gene encoding the Huntingtin protein (Htt) with physical, emotional, and cognitive symptoms. Current standard-of-care regimens for HD are limited to symptom-mitigating …
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Neural Stem Cells as a Model to Study Huntington’s Disease
<p>Huntington’s disease (HD) is a heritable neurodegenerative disorder that affects muscle coordination and diminishes cognitive abilities, by affecting the medium spiny neurons in the brain. In HD patients, neurons are damaged and destroyed because of the toxicity of the mutant Huntington protein …
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The clinical utility of multidisciplinary rehabilitation in individuals with Huntington’s Disease
Background Huntington’s disease (HD) is a chronic neurodegenerative disorder characterised by a progressive loss of cognitive function, motor control and psychiatric features. Individuals also display a variety of systemic features. Progressive neuronal dysfunction and neuronal cell death are …
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Motivations and Attitudes for Pursuing Anonymous Genetic Testing for Huntington’s Disease
<p>Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. However, only a small portion of at-risk individuals complete predictive testing. Concerns of privacy and genetic discrimination have been cited as reasons testing is …
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Regulation of the redox homeostasis during polyglutamine misfolding in Huntington’s Disease
Huntington’s Disease (HD) is one of many neurodegenerative diseases that are associated with protein misfolding, aggregation and oxidative stress. While several changes in the redox homeostasis have been shown to occur in HD animal models and HD brains, the formal relationships between …
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Characterising social cognition and its predictors in individuals with premanifest Huntington’s disease
Huntington’s disease (HD) is a rare neurodegenerative disease that is characterised by motor, cognitive, and neuropsychiatric disorders. This condition affects 5-8 per 100, 000 people, and the average life expectancy from onset is between 15 to 25 years. Huntington’s disease is caused by an …
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DNA Damage Response in Huntington’s Disease and Naked Mole Rat Brain Ageing
… the DNA damage response in the pathogenesis of Huntington's disease (HD). Multi-omic analyses of NMR brain ageing revealed a lack of a canonical ageing signature in the NMR cortex, with no observed increase in inflammation, DNA damage, or cellular senescence. Single-cell sequencing uncovered …
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Understanding the role of dopamine in pathology and cognition in Huntington’s disease
Huntington’s disease is a genetic neurodegenerative disease caused by a CAG repeat expansion in the Huntingtin gene. Dysfunction of dopamine (DA) signalling is thought to drive several of its clinical manifestations. DA receptors in frontostriatal pathways are lost early in the disease course – a …
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The views of adults with Huntington’s disease on assisted dying : a psychological exploration
Neurodegenerative diseases are not typically associated with a palliative care approach, despite poor quality of end-of-life care for people with these conditions. The first aim of this thesis was to understand the views of adults with neurodegenerative diseases on end-of-life care. Consequently, a …
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Investigating The Dysregulation And Therapeutic Potential Of Neuroprotective Stress Response Proteins In Huntington’s Disease
Huntington’s disease (HD) is a fatal, genetic neurodegenerative disease that shares many features with other common neurological disorders, including early synapse loss. In both human HD brain and murine models, apoptotic pathways are dysregulated and mammalian target of rapamycin complex 1 …
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Exploring central and enteric nervous system vulnerability in Huntington’s Disease: hints from a knock-in animal model
Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an aberrant expansion of CAG repeats within the HTT gene, for which there is currently no cure. The disease is driven by the mutant huntingtin protein, which predominantly leads to the degeneration of the striatum …
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Identification of a Role for Huntingtin in the Control of Synaptic Connectivity in Circuits Disrupted by Huntington’s Disease
<p>Huntington’s disease (HD) is an adult-onset, neurodegenerative disease caused by an autosomal dominant mutation in the huntingtin (HTT) gene. HD patients suffer from motor, cognitive, and psychiatric symptoms. The pathogenic mutation of HD is expansion of a CAG repeat in the first exon of the …
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Preclinical Evaluation of Matrix Metalloproteinase Inhibitors and Protein Kinase C Activators in Cell and Mouse Models of Huntington’s Disease
<p>Huntington’s disease (HD) is an incurable genetic neurological disorder that affects 1 in 10,000 people, with no treatment that can alter the course of the disease. Neural cell death in the striatum and the cortex results from the accumulation of toxic mutant huntingtin protein (mHTT) fragments. …
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Pharmacological inhibition of CK2: the effect of an FDA designated orphan drug on pathology, neuroinflammation, and glial phenotypes in Huntington’s disease
Huntington’s disease (HD) is a devastating autosomal dominant neurodegenerative disease that manifests with progressive motor, cognitive, and psychological impairments. HD is caused by a polyQ (CAG) repeat expansion in the huntingtin (HTT) gene, leading to the misfolding and aggregation of mutant …
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