Alexander’s Disease can be classified based on the age of presentation. It can present during infancy.
Time of onset: from 8 weeks to 2 years of age
Gene affected: GFAP
Clinical features:
(1) progressive psychomotor retardation
(2) frontal bossing
(3) megaloencephaly including the brainstem and cerebellum
(4) seizures
(5) hyperreflexia
(6) pyramidal signs
(7) ataxia
(8) hydrocephalus (usually due to aqueductal stenosis)
(9) feeding problems with difficulty swallowing
(10) hypotonia or hypertonia
Death usually occurs during childhood or early adolescence.