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How to diagnose difficult white matter disorders
  1. Thomas Williams1,
  2. Henry Houlden2,
  3. Elaine Murphy3,
  4. Nevin John1,
  5. Nick C Fox4,
  6. Jonathan M Schott4,
  7. Matthew Adams5,
  8. Indran Davagananam5,6,
  9. Jeremy Chataway1,
  10. David S Lynch2
  1. 1Queen Square MS Centre, Department of Neuroinflammation, UCL Institute of Neurology, London, UK
  2. 2Department of Neuromuscular Disease, UCL Institute of Neurology and the National Hospital for Neurology & Neurosurgery, London, UK
  3. 3Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK
  4. 4Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK
  5. 5Lysholm Department of Neuroradiology, National Hospital for Neurology & Neurosurgery, London, UK
  6. 6Department of Brain Repair and Rehabilitation (ID), UCL Institute of Neurology, London, UK
  1. Correspondence to Dr David Lynch, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK; david.lynch2{at}


Genetic and acquired disorders of white matter comprise a diverse group of conditions, with often overlapping clinical and radiological findings. Patients present with a variable combination of cognitive impairment, ataxia, spasticity or movement disorders, among others. There are many genetic causes, and the route to diagnosis involves comprehensive clinical assessment, radiological expertise, metabolic investigations and finally genetic studies. It is essential not to miss the treatable acquired causes. In this review, we present a practical approach to investigating patients with acquired and genetic disorders of white matter, based on the experience of a large international referral centre. We present a guide for clinicians, including pitfalls of testing, clinical pearls and where to seek advice.

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  • Contributors TW, HH, EM, NJ, NCF, JMS, MA, ID, JC and DSL authors participated in drafting the manuscript and figures. Final oversight and approval provided by JC and DSL.

  • Funding MRC, Wellcome Trust, UCLH Biomedical Research Centre.

  • Competing interests None declared.

  • Ethical approval Not required.

  • Provenance and peer review Commissioned. Externally peer reviewed by Emma Tallantyre, Cardiff, UK.

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