title: Spectrum of movement disorders in neuroferritinopathy.
abstract: Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals.
authors.affiliation: Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne, United Kingdom.
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Crompton
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: David
authors.initials: D
authors.lastname: Bates
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Walls
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: Jackson
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Curtis
authors.forename: John
authors.initials: J
authors.lastname: Burn
mesh_terms: D005293:Ferritins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D017072:Neostriatum / Q000473:pathology; D014743:Videotape Recording / Q000379:methods
chemical_list: D005293:Ferritins