| Main clinical features
|
congenital cerebral palsy with evidence for neuroaxonal damage and glutamate receptor abnormality, mimicking perinatally acquired hypoxic-ischemic white matter injury
with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking, and severe mental retardation, progressive spasticity of all limbs with generalized hypertonia, high deep tendon reflexes, and Babinski signs were present by the end of the first year; speech absent or limited
infantile onset, nonprogressive spastic quadriplegic with severe cognitive impairment; variably associated with adducted thumbs
at the MRI variable loss of white matter, ventriculomegaly, variable cerebellar atrophy
neuroaxonal abnormalities, gliosis, and reduced myelin noted on post mortem examination |