title: Neuroferritinopathy: a new inborn error of iron metabolism.
abstract: Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.
authors.affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Keogh
authors.forename: Patricia
authors.initials: P
authors.lastname: Jonas
authors.forename: Alan
authors.initials: A
authors.lastname: Coulthard
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: John
authors.initials: J
authors.lastname: Burn
mesh_terms: D000293:Adolescent; D000328:Adult; D001052:Apoferritins / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000473:pathology* / Q000503:physiopathology*; D002648:Child; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders; D008279:Magnetic Resonance Imaging; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000473:pathology* / Q000503:physiopathology*; D055815:Young Adult
chemical_list: D001052:Apoferritins; D007501:Iron