Search for dissertations about: "Spinocerebellar"
Showing result 1 - 5 of 18 swedish dissertations containing the word Spinocerebellar.
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1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene
Abstract : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. READ MORE
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2. Speech, voice, language and cognition in individuals with spinocerebellar ataxia (SCA)
Abstract : Spinocerebellar ataxias (SCA) constitute a group of genetically defined hereditary, degenerative, progressive diseases affecting the cerebellum and its connections. Few previous investigations have focused on how SCA affects different aspects of communication. READ MORE
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3. Monoaminergic modulation in spinal reflex pathways from group I afferents
Abstract : Serotonin and noradrenaline are known to play an important part in modulation of spinal neuronal networks. Group I muscle afferents mediate information on dynamic changes of muscle length and tension, and modulation of actions from these afferents could be of importance for the execution of movements. READ MORE
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4. Expression and functional analysis of the SCA7 disease protein ataxin-7
Abstract : Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease characterized by cerebellar ataxia and visual problems due to a progressive and selective loss of neurons within the cerebellum, brainstem and retina. The disease is caused by the expansion of a CAG repeat in the first coding exon of the SCA7 gene, resulting in an expanded polyglutamine domain in the N-terminal part of ataxin-7, a protein of unknown function. READ MORE
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5. Studies of polyglutamine repeats and their biology in relation to disease
Abstract : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. READ MORE