Home > D. General pathology > Genetic and developmental anomalies > Alexander disease
Alexander disease
Thursday 18 March 2004
Autosomal dominant neurological disease.
Synopsis
Progressive macrocephaly
Hydrocephalus
Diffuse demyelination
Coarsened pattern of sulci and gyri
Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments) in astrocytes
Presence of glial fibrillary acidic proteins (GFAP) in astrocytes
Elevated CSF protein
Etiology
germline mutations in GFAP protein
References
Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. PMID: 12175861
