Features of Alexander’s disease:
– due to mutation of glial fibrillary acidic protein (GFAP) gene
– frontal-predominance demyelinating pattern
– Infantile form presents earlier than 3 years of age with developmental regression, macrocephaly, and spasticity
– seizures are a main feature
Abnormal glial fibrillary acidic proteins will become densely packed into what are called Rosenthal fibers