Neuroferritinopathy comprehensive review

Abstract

Neuroferritinopathy is a rare, autosomal dominant neurodegenerative disorder characterized by the accumulation of iron in the brain due to mutations in the ferritin light chain gene (FTL). This article explores the incidence, prevalence, pathogenesis, types, and treatment options for neuroferritinopathy, drawing on current scientific literature to provide a comprehensive overview. Neuroferritinopathy clinically presents in mid-adulthood, most frequently between the third and the fifth decade of life. Onset: Symptoms are often gradual, though patients may develop dystonia, chorea, parkinsonism, and cognitive dysfunction.