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Alexandrova choroba

  1. Subject h.Alexandrova choroba
    Subject h.Alexander Disease
    Entry termsAlexanderova choroba
    Scope note in EnglishRare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
    See also reference (FX) in Slovak proteín gliový kyslý fibrilárny
    See also reference (FX) in English Glial Fibrillary Acidic Protein
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    (1) - MeSH descriptor
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