Sökning: "Spinocerebellar ataxia"

Visar resultat 1 - 5 av 15 avhandlingar innehållade orden Spinocerebellar ataxia.

  1. 1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

    Författare :Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

    Sammanfattning : 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. LÄS MER

  3. 2. Speech, voice, language and cognition in individuals with spinocerebellar ataxia (SCA)

    Författare :Ellika Schalling; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  4. 3. Expression and functional analysis of the SCA7 disease protein ataxin-7

    Författare :Anna-Lena Ström; Monica Holmberg; Patrik Brundin; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Polyglutamine disease; CAG repeat; Spinocerebellar ataxia type 7; Molekylärbiologi; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

    Sammanfattning : 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. LÄS MER

  5. 4. Genotype-phenotype characterization of familial hyperkinetic movement disorders : emphasis on ataxia and brain calcifications

    Författare :Martin Paucar; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Differential diagnosis of familial chorea encompasses Huntington’s disease along with a group of conditions referred to as Huntington’s disease-like (HDL). One such HDL is an inherited prion disorder (IPD) caused by pathological insertions of 8 additional OPRIS in the prion protein gene (PRNP). LÄS MER

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

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

    Sammanfattning : 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. LÄS MER