Sökning: "Huntington’s disease"

Visar resultat 1 - 5 av 47 avhandlingar innehållade orden Huntington’s disease.

  1. 1. Communication breakdown - synaptic dysfunction in Huntington's disease

    Författare :Ruben Smith; Neurobiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodegeneration; Neurology; neuropsychology; neurophysiology; Neurologi; cholinergic neuron; exocytosis; transmitter release; intracellular transport; insulin; Huntington s disease; synapse; neuropsykologi; neurofysiologi;

    Sammanfattning : Huntington's disease (HD) is a neurodegenerative disease caused by a CAG-triplet expansion in the gene encoding the protein huntingtin. The disease typically starts in mid-life and progresses for 15-20 years. To date no effective treatment is available for curing the disease. HD primarily affects the striatum, cerebral cortex and hypothalamus. LÄS MER

  3. 2. Mapping the Huntington's disease process using cerebrospinal fluid analysis

    Författare :Valter Niemelä; Anne-Marie Landtblom; Dag Nyholm; Jimmy Sundblom; Edward Wild; Uppsala universitet; []
    Nyckelord :Neurodegeneration; Huntingtons disease; Neurogenetics; Neuroinflammation; Neurofilament light; tau; Proenkephalin; Neurology; Neurologi;

    Sammanfattning : Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by a CAG-repeat expansion in the HTT-gene. Today there are no disease-modifying therapies (DMTs), but several promising clinical trials are underway, including therapies that reduce mutant huntingtin expression. LÄS MER

  4. 3. A peripheral immune response in Huntington's disease and delineation of its importance in disease pathology

    Författare :Anna Magnusson-Lind; Biomarkörer vid hjärnsjukdomar; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington s disease; peripheral symptoms; immune response; muscle atrophy; cytokines; gene expression; JAK STAT; NFkB; IL-6; TNF-alpha;

    Sammanfattning : Huntington’s disease (HD) is a fatal, hereditary disease for which there is no cure. It is caused by a mutation in a gene called huntingtin. HD is a so-called neurodegenerative disease, where there is a loss of neurons in areas of the brain that control body movements. This results in uncontrolled dance-like movements (chorea). LÄS MER

  5. 4. Psychiatric and metabolic disturbances in experimental models of Huntington’s disease

    Författare :Sofia Hult Lundh; Translationell neuroendokrinologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington’s disease; huntingtin; hypothalamus; depression; anxiety; metabolism; neuroendocrinology; mouse models; BACHD; rAAV vectors; leptin;

    Sammanfattning : Non-motor symptoms and signs such as metabolic and psychiatric disturbances have been reported to occur early in Huntington’s disease (HD), a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. However, there is a lack of understanding of the underlying neurobiological mechanisms responsible for the early non-motor features. LÄS MER

  7. 5. Hypothalamic and Metabolic Dysfunction in Genetic Models of Huntington’s Disease

    Författare :Rana Soylu Kucharz; Translationell neuroendokrinologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington’s Disease; Huntingtin; Hypothalamus; Metabolism; Obesity; orexin; PVN; BAT; TH; neuroendocrinology;

    Sammanfattning : Huntington’s disease (HD) is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. HD is an inherited progressive neurodegenerative disorder manifested by the wide array of motor dysfunctions, as well as non-motor symptoms. LÄS MER