title: Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
abstract: BACKGROUND
  Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia.
  
  
  METHODS
  A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF.
  
  
  RESULTS
  There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician.
  
  
  CONCLUSIONS
  NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington's disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success.
authors.affiliation: Department of Clinical Neurological Sciences, Western University, London, ON, Canada.
authors.forename: Niraj
authors.initials: N
authors.lastname: Kumar
authors.affiliation: Department of Clinical Neurological Sciences, Western University, London, ON, Canada.
authors.forename: Philippe
authors.initials: P
authors.lastname: Rizek
authors.affiliation: Department of Clinical Neurological Sciences, Western University, London, ON, Canada.
authors.forename: Mandar
authors.initials: M
authors.lastname: Jog
keywords: FTL1 gene; Huntington’s disease; Neuroferritinopathy; chorea; dystonia; hereditary ferritinopathy; neurodegeneration with brain iron accumulation