Neurological manifestations
• Global developmental delay / regression (usually between 6-18 months)
• Intellectual disability (variable degree)
• Severe language disorder
• Spastic/dystonic tetraparesis
• Seizures, refractory
• Nystagmus
• Acquired microcephaly (in some patients)
• Scoliosis
• Joint contractures
• Failure to thrive. Tube feeding
• Peripheral neuropathy
• Dysmetria
• Dysarthria
MRI: Hypomyelinating leukodystrophy, thinning of the corpus callosum, and progressive thalamic and cerebellar atrophy.
DEGS1