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A novel FTL insertion causing neuroferritinopathy
  1. S Batey1,
  2. I Vuillaume2,
  3. D Devos3,
  4. A Destée3,
  5. A J Curtis1,4,
  6. A Lombes5,
  7. A Curtis1,4,
  8. J Burn4,
  9. P F Chinnery4,6
  1. 1Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  2. 2Neurobiology Unit, Centre de Biologie Pathologie, CHRU, Lille, France
  3. 3Department of Neurology and Movement Disorders, EA2683, IFR 114, IMPRT, Hôpital R Salengro, CHU, Lille, France
  4. 4Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
  5. 5Inserm UR582, Paris, France
  6. 6Department of Neurology, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  1. Correspondence to Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle upon Tyne, NE2 4HH, UK; p.f.chinnery{at}

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In 2003 we re-investigated a French family with a progressive adult onset movement disorder and cystic cavitation of the basal ganglia on brain magnetic resonance imaging (MRI).1 The clinical picture was strikingly similar to that which we described in a Cumbrian pedigree transmitting a pathogenic adenine insertion at position 460–461 (460dupA) in the ferritin light polypeptide gene, FTL.2 3 EcoN1 restriction digestion of an FTL polymerase chain reaction (PCR) product from one of the French patients revealed an identical banding pattern to that seen in affected individuals from the Cumbrian family. This led to the diagnosis of neuroferritinopathy.4 Subsequent haplotype analysis revealed a shared microsatellite marker 100 kb telomeric to the FTL mutation, but the more distal telomeric and …

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  • Competing interests None.