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Neurological rarity
An unusual gait following the discovery of a new disease
  1. M J Keogh1,
  2. A Khan2,
  3. G Gorman3,
  4. A McNeill4,
  5. R Horvath5,
  6. J Burn6,
  7. P F Chinnery7
  1. 1F2 doctor, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK and Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle Upon Tyne, UK
  2. 2F2 doctor, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK
  3. 3Consultant Neurologist, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK
  4. 4Clinical Research Associate, Department of Clinical Neurosciences, UCL Institute of Neurology (Hampstead Campus), Royal Free Hospital, London, UK
  5. 5Consultant Neurogeneticist, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK and Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle Upon Tyne, UK
  6. 6Consultant Clinical Geneticist and Professor of Human Genetics, Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle Upon Tyne, UK
  7. 7Consultant Neurologist and Professor of Neurogenetics, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK and Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle Upon Tyne, UK
  1. Correspondence to Professor P Chinnery, Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne NE1 4LP, UK; p.f.chinnery{at}newcastle.ac.uk

Abstract

A 39-year-old woman presented to the neurology clinic with an abnormal gait. Subsequent investigations confirmed a rare neurodegenerative disease. This case highlights the key clinical features and diagnostic approach to neuroferritinopathy, and describes the discovery of the disease in a family from Cumbria in the north west of England.

https://doi.org/10.1136/jnnp.2011.242230

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Provenance and peer review Commissioned; not externally peer reviewed.