Search for dissertations about: "spastic paraplegia"

Found 4 swedish dissertations containing the words spastic paraplegia.

  1. 1. Studies on hereditary spastic paraplegia proteins

    Author : Cynthia Soderblom; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    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

  2. 2. Trinucleotide repeats and neuropsychiatric phenotypes

    Author : Qiu-Ping Yuan; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Trinucleotide; repeat expansion; psychiatric disorder; gene; spastic paraplegia;

    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

  3. 3. Studies of polyglutamine repeats and their biology in relation to disease

    Author : Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
    Keywords : trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

    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

  4. 4. The Stockholm spinal cord injury study : medical, economical and psycho-social outcomes in a prevalence population

    Author : Richard Levi; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Computers; out-patient care. spinal cord injury; epidemiology; outcome. complications; neurological deterioration; health related issuesIS8N 91-628-1991-7;

    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