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An insight into Neuroferritinopathy

by Rhys Doshi L6C  Neuroferritinopathy is a severe neurological disorder, which is triggered when there is a gradual accumulation of iron in the brain [1] . Neurodegeneration with brain iron accumulation (NBIA) refers to a group of rare diseases that share clinical characteristics associated with excessive iron accumulation in the basal ganglia as well as progressive neurological deficits, such as chorea, dystonia, parkinsonism and cognitive impairment. Neuroferritinopathy is a form of NBIA caused by mutations in the ferritin light chain (FTL1) gene on chromosome 19q13.3.The build-up of iron can be caused by several factors, including increased blood-brain barrier permeability, inflammation, redistribution of iron within the brain and changes in iron homoeostasis [2] .  The most common initial clinical manifestations of Neuroferritinopathy are chorea and dystonia, and only six patients have been described who initially presented with tremors [3] . A 27-year-old woman visited a...