Neuro-ferritinopathy is an autosomal dominantly transmitted condition characterized pathologically by neuro-degeneration with brain iron accumulation. It is caused by a mutation of the gene encoding ferritin light chain polypeptide. Clinically, patients with this condition usually present in middle age with disorders of articulation and asymmetric chorea, dystonia or Parkinsonism. The condition progresses over many years and most patients will end up severely disabled, with prominent bulbar dysfunction and severe mobility problems. Cognition remains remarkably spared. Males and post menopausal females usually but not always have low serum ferritin. Radiological findings are those of cavitation of the basal ganglia associated with wide spread iron deposition, affecting cerebellum, basal ganglia and cerebral cortex.
We present four male cases of this condition from two families. The clinical, biochemical and radiological findings are typical for this condition and videos of these patients will be shown. Follow up in one case has been for 15 years.
One family has been shown to have the initially described 460 InsA pathogenic mutation in the ferritin light chain gene and characterization of the other family’s mutation is currently underway.