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Neuroferritinopathy: a new inborn error of iron metabolism

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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.

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Acknowledgements

MJK is an NIHR Academic Clinical Fellow. P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science and a UK National Institute of Health Senior Investigator who also receives funding from the Medical Research Council (UK), Parkinson's UK, the Association Francaise contre les Myopathies, and the UK NIHR Biomedical Research Centre for Ageing and Age-Related Disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust. JB is an NIHR Senior Investigator.

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Authors and Affiliations

  1. Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK

    Michael J. Keogh, Patricia Jonas, Patrick F. Chinnery & John Burn

  2. Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK

    Michael J. Keogh & Patrick F. Chinnery

  3. Department of Medical Imaging, Royal Brisbane Hospital, Brisbane, Queensland, Australia

    Alan Coulthard

Authors
  1. Michael J. Keogh
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  2. Patricia Jonas
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  3. Alan Coulthard
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  4. Patrick F. Chinnery
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  5. John Burn
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Correspondence to John Burn.

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Keogh, M.J., Jonas, P., Coulthard, A. et al. Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics 13, 93–96 (2012). https://doi.org/10.1007/s10048-011-0310-9

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  • DOI: https://doi.org/10.1007/s10048-011-0310-9

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