Neuroferritinopathy
Definition:
Neuroferritinopathy is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.
References:
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[1]. Katsuya Nishida, et al. A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. J Neurol Sci. 2014 Jul 15;342(1-2):173-7. [Content Brief]
[2]. Niraj Kumar, et al. Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. Tremor Other Hyperkinet Mov (N Y). 2016 Mar 17;6:355. [Content Brief]
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