title: Neuroferritinopathy.
abstract: Neuroferritinopathy remains the only autosomal dominant syndrome of neurodegeneration with brain iron accumulation (NBIA). While the majority of identified cases appear to be part of an extended pedigree in the northeast of England, patients are increasingly being identified across the globe. Since its discovery in 2001, there have been significant developments in our understanding of the pathological, radiological, and clinical aspects of the condition, though several key pathomechanistic questions, and crucially treatment paradigms, remain unaddressed. This chapter summarizes the genetic etiology, pathological, radiological, and clinical data from all published data to date and suggested potential new avenues for therapy.
authors.affiliation: Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Keogh
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Morris
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000595:Amino Acid Sequence; D006801:Humans; D019189:Iron Metabolism Disorders / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology*; D008969:Molecular Sequence Data; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology*; D011859:Radiography; D040281:Vascular Endothelial Growth Factor Receptor-1 / Q000235:genetics*
chemical_list: C501162:FLT1 protein, human; D040281:Vascular Endothelial Growth Factor Receptor-1
keywords: Extrapyramidal; Ferritin; Hereditary ferritinopathy; Iron; Neurodegeneration; Neuroferritinopathy