title: Neuroferritinopathy.
abstract: Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide. It leads to iron deposition particularly in the cerebellum, basal ganglia and motor cortex. The disease becomes clinically apparent in adulthood mainly with extrapyramidal signs and progresses slowly over decades. Patients usually have intact cognition until the very late stages of this disorder. Neuroimaging is the most helpful investigation and shows a very distinctive picture. So far no medication has been shown to have a disease-modifying effect. We present five new cases of this condition and review the current understanding of the pathogenesis and its clinical findings.
authors: Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia. alex_lehn@health.qld.gov.au
authors: Alexander
authors: A
authors: Lehn
authors: Richard
authors: R
authors: Boyle
authors: Helen
authors: H
authors: Brown
authors: Caroline
authors: C
authors: Airey
authors: George
authors: G
authors: Mellick
mesh_terms: D001052:Apoferritins / Q000097:blood / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007501:Iron / Q000378:metabolism; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010375:Pedigree
chemical_list: D001052:Apoferritins; D007501:Iron