Alexander disease

Chapter

Abstract

  • Alexander disease (AxD) is a rare, usually progressive, neurodegenerative disorder that presents with a wide range of symptoms and can occur at any stage of life. Historically it has been classified as a leukodystrophy due to myelin deficits often being present in the more readily diagnosed early onset cases. However, the absence of white matter pathology in a number of more recently diagnosed cases has prompted the suggestion that the disorder be reclassified as an astrogliopathy. Pathologically, the disease is characterized by astrocytic accumulation of Rosenthal fibers, which are protein aggregates containing glial fibrillary acidic protein (GFAP). Mutations in the GFAP gene account for nearly all cases.
  • Authors

    Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780128093245
  • Start Page

  • 23
  • End Page

  • 26