Acute onset of adult Alexander disease and the concept of GFAP toxicity

Alexander's disease (AD) is a rare neurodegenerative disorder first described by W. Stewart Alexander in 1949. It comprises central nervous system (CNS) white matter degeneration (leukodystrophy) and the formation of eosinophilic protein aggregates (Rosenthal fibers) in the astrocyte cytoplasm [1,2]. AD is mostly sporadic, caused by de novo heterozygous variants in the GFAP gene encoding the glial fibrillary acidic protein, the major component of astrocytic intermediate filaments and Rosenthal fibers.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research