neurogenetics

, Volume 13, Issue 1, pp 93–96

Neuroferritinopathy: a new inborn error of iron metabolism

  • Michael J. Keogh
  • Patricia Jonas
  • Alan Coulthard
  • Patrick F. Chinnery
  • John Burn
Short Communication

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.

Keywords

Neurodegeneraion Brain iron Ferritin Extrapyramidal Metabolism Movement disorder 

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Michael J. Keogh
    • 1
    • 2
  • Patricia Jonas
    • 1
  • Alan Coulthard
    • 3
  • Patrick F. Chinnery
    • 1
    • 2
  • John Burn
    • 1
  1. 1.Institute of Genetic Medicine, International Centre for LifeNewcastle UniversityNewcastle Upon TyneUK
  2. 2.Department of Neurology, Royal Victoria InfirmaryNewcastle Upon TyneUK
  3. 3.Department of Medical ImagingRoyal Brisbane HospitalBrisbaneAustralia

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