Inheritance: autosomal recessive
Clinical features:
(1) occurrence in children and adolescents
(2) extrapyramidal findings (dystonic postures, muscular rigidity, choreoathetosis, tremor, involuntary movements)
(3) disorders of the corticospinal tract
(4) dementia
The disorder follows a relentlessly progressive course.
Findings on neuropathology or MRI studies:
(1) bilateral, symmetrical lesions of the globi pallidi
(2) bilateral, symmetrical lesions of the pars reticulata of the substantia nigra
Brain iron can be seen as hypointense areas on T2-weighted images using spin-echo (SE) sequence in a high field strength MRI (1.5T).
Histological examination shows:
(1) demyelination
(2) focal axonal swelling
(3) spheroids
(4) iron-containing pigment
