Sökning: "CAG repeat expansion"

Visar resultat 1 - 5 av 15 avhandlingar innehållade orden CAG repeat expansion.

  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. 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

  4. 3. Trinucleotide repeats and neuropsychiatric phenotypes

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

    Sammanfattning : 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. LÄS MER

  5. 4. 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

  7. 5. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

    Författare :Kerstin Lindblad; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :affective disorder; CTG18.1; DNA; ERDA1; expanded trinucleotide repeats; gene isolation; mutation; Parkinson s disease; repeat expansion detection; repeat instability; spinocerebellar ataxia;

    Sammanfattning : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. LÄS MER