Synergistic Effects of Glial Fibrillary Acidic Protein Mutation and Overexpression in the Pathogenesis of Alexander Disease.

Abstract excerpt

Alexander disease (AxD) is a rare and fatal neurodegenerative disorder caused by dominant mutations in the gfap gene, which encodes glial fibrillary acidic protein (GFAP), a major intermediate filament in astrocytes. As a primary astrogliopathy, AxD is marked by white matter abnormalities, the formation of GFAP-containing Rosenthal fibers, astrocyte dysfunction, and progressive neurodegeneration. While GFAP...

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