Sökning: "Hereditary ataxia"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden Hereditary ataxia.

  1. 1. Clinical and genetic studies of patients and families with ataxia

    Författare :Sorina Gorcenco; Lund Neurologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary ataxia; Next generation DNA sequencing; Diagnostic yield; Quality of life;

    Sammanfattning : .... LÄS MER

  3. 2. Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome

    Författare :Johannes Finnsson; Raili Raininko; Eva Kumlien; Isabella Björkman-Burtscher; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Leukoencephalopathies; hereditary central nervous system demyelinating diseases; autonomic dysfunction; adult-onset; neuromuscular disease; pediatric; neuro-ophtalmology; ataxia;

    Sammanfattning : There are approximately 6000 to 8000 rare diseases, each with a prevalence of less than 1 / 10 000, but in aggregate affecting 6 to 8% of the population. It is important to evaluate disease development and progression to know the natural course of any disease. LÄS MER

  4. 3. 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

  5. 4. Oligomerization of human and bacterial frataxin : Structural and functional studies

    Författare :Mostafa Abdalkhalik; Biokemi och Strukturbiologi; []
    Nyckelord :Frataxin; Friedreich’s ataxia; iron; reactive oxiden species; protein oligomerization; SAXS; EM; cross-linking; XAFS; nano- DSF;

    Sammanfattning : Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by defeciency in frataxin, a highly conserved protein central to iron homeostasis in mirochondria. The function of frataxin is related to its capability to bind, store and deliver iron to different biochemical process such as iron-sulfur cluster assembly and heme biosynthesis. LÄS MER

  7. 5. 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