Search for dissertations about: "spastic paraplegia"
Found 4 swedish dissertations containing the words spastic paraplegia.
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1. Studies on hereditary spastic paraplegia proteins
Abstract : The hereditary spastic paraplegias (HSPs) are a clinically and genetically diverse group of inherited neurological disorders that primarily cause progressive spasticity and weakness in the lower limbs due to a length-dependent, retrograde degradation of the corticospinal motor neurons. Purely spastic paraplegia is also known as uncomplicated HSP, but complicated forms of HSP exist as well, with symptoms such as mental retardation, dementia, seizures, and optic, cortical, and cerebellar atrophy. READ MORE
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2. Trinucleotide repeats and neuropsychiatric phenotypes
Abstract : Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden. Four candidate regions on chromosomes 16, 18, 21 and 4p were excluded. READ MORE
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3. 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
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4. The Stockholm spinal cord injury study : medical, economical and psycho-social outcomes in a prevalence population
Abstract : The first stage or the SSCIS, presented in this thesis is based on a near-total regional prevalence population of 353 individuals with traumatic SCI. Medical, economic, and psycho-social variables were assessed by semi-structured individual interview, physical examination, questionnaires and review of medical records. READ MORE