| Main clinical features
|
spastic paraplegia, onset between 6 and 11 years with foot drop and difficulty walking, rapid progression over the following 2 to 4 years with steadily increasing lower and then upper limb spasticity with hyperreflexia and extensor plantar responses, resulting in complete dependence by age 25
variable features included dysarthria, ankle clonus, and increased muscle tone in the lower limbs
associated with intellectual disability and seizures; at IRM of the brain, white matter abnormalities suggestive of a leukodystrophy.
Age at onset < 5 years, sever lower and upper limbs spasticity and amyotrophy, marked bilateral ankle clonus and bilateral Babinski signs, severe dystonia, mild ataxia, dysarthria, dysphagia, urinary and fecal incontinence, severe leukoencephalopathy with cortical, cerebellar, and brainstem atrophy, hypointensity of globus pallidus, thin corpus callosum, epilepsy and nystagmus PMID:23566484 |