They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life.
Some patients survive into adulthood.
Cherry red spots or the retina, optic atrophy, and sluggish pupillary reflexes. Brain examination shows loss of oligondendroglia, rarefaction of the white matter, and astrogliosis. In advanced stages, CT and MRI indicate diffuse reduction of the white matter. Neurological symptoms are more variable and generally less severe in the late-onset form and include spastic diplegia, hemiparesis, and seizures. Cerebrospinal fluid protein is elevated.