Alexander Disease (ALX)

Alexander disease has three forms, infantile, juvenile and adult, all three forms are unified by the presence of Rosenthal fibres (RF), microscopic protein aggregates are found in astrocytes in the brain and spinal cord. Most cases are genetic; dominate mutation (change) in the Glial Fibriallary Acidic Protein (GFAP) gene chromosome 17, Causing demyelination. Alexander disease affects both males and females. 80% of cases are infantile, 14 % are juvenile and adult form is rare.

Main symptoms in all three forms are progressive mental impairment and loss of motor control.

Infantile - average on-set 6months - 2 years, symptoms are progressive physical and mental retardation, loss of previously attained milestones, head size can become increasingly large, other symptoms maybe seizures, spasticity (stiff arms & legs), feeding problems, ataxia (poor coordination) and may lead to hydrocephalus (water on the brain).

Juvenile - Average on-set 4years to early teens, children may develop some or all symptoms. Speech problems, swallowing difficulties, frequent vomiting, spasticity of the legs, gradual intellectual decline, seizures, sometimes breathing problems. The white matter abnormalities are less prominent in the Juvenile form compared to the infantile form.

Adult - on-set is variable, this is the least common form, adult symptoms vary and mimic Multiple Sclerosis or can display similar to juvenile form with a later on-set and slower progression. White matter changes may not be present.

At present there is no known treatment or cure for this disorder, only symptomatic and supportive can be offered to patients.