| Main clinical features
|
iron accumulation in the basal ganglia
in infancy, gait difficulties and persistent toe walking
mild oro-mandibular dystonia with dysarthria and also spastic dystonic paraparesis, mental retardation
severe spastic bradykinetic-rigid syndrome associated with mild dystonia and with distal areflexia in the lower limbs
EMG and nerve conduction studies were consistent with a mild motor axonal neuropathy; serial brain MRI showed bilateral hypointensity in the globi pallidi associated with a central region of hyperintensity in the antero-medial portion |