disease: Alexander Disease

nameAlexander Disease
descriptionAlexander disease is a progressive disorder of cerebral white matter that predominantly affects infants and children and has variable life expectancy. The later-onset forms present with a slower clinical course. The infantile form comprises about 42% of affected individuals, the juvenile form about 22%, and the adult form about 33%. A neonatal form is also recognized. The neonatal form leads to severe disability or death within two years. Characteristics include seizures, hydrocephalus, severe motor and intellectual disability, and elevated CSF protein concentration. MRI shows severe white matter abnormalities with involvement of the basal ganglia and cerebellum. The infantile form presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly, frontal bossing, and seizures. Other findings include hyperreflexia and pyramidal signs, ataxia, and occasional hydrocephalus secondary to aqueductal stenosis. Affected children survive weeks to several years. The juvenile form usually presents between ages four and ten years, occasionally in the mid-teens. Findings can include bulbar/pseudobulbar signs, ataxia, gradual loss of intellectual function, seizures, normocephaly or megalencephaly, and breathing problems. Survival ranges from the early teens to the 20s-30s. The adult form is the most variable.
variant-disease NM_002055.5(GFAP):c.236G>A (p.Arg79His) AND Alexander Disease
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) AND Alexander Disease
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) AND Alexander Disease
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) AND Alexander Disease
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) AND Alexander Disease
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