Toxic gain function
Alexander Disease
Genotype
GFAP promoters
Mechanism
Toxic gain function
Phenotype
Hypoactivity, Seizures, Startle response, Cognitive impairment, Fatigue
Biomarker
GFAP, NfL, MBP, S100B
Gene Expression Markers
HSP27, TNF-α, IL-1β, PLP1, p62
Physiology Changes
Edema, Postural Abnormalities
Histology Grading Endpoint
Marked astrocytosis, Eosinophilic inclusions within astrocytes, Demyelination