Alexander disease is a rare but often fatal disease of the central nervous system. Infantile,
juvenile and adult forms have been described that present with different clinical signs, but
are unified by the characteristic presence in astrocytes of Rosenthal fibers–protein
aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins. The
chance discovery that mice expressing a human GFAP transgene formed abundant
Rosenthal fibers suggested that mutations in the GFAP gene are a cause of Alexander …