Review of Alexander disease: beyond the classical concept of leukodystrophy.

Abstract excerpt

Alexander disease is classified as one of the leukodystrophies, which are degenerative diseases primarily affecting the cerebral white matter. Formal diagnosis is achieved by showing diffuse accumulation of Rosenthal fibers in the brain by biopsy or autopsy. Showing a heterozygous mutation in the glial fibrillary acidic protein (GFAP) gene is currently sufficient for diagnosis. The mechanisms of Rosenthal fiber...

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