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Not just neurological stamp collecting: when rare diagnoses lead to fundamental advances
  1. Jonathan M Schott
  1. Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK
  1. Correspondence to Professor Jonathan M Schott, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK; j.schott{at}ucl.ac.uk

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A clinicopathological conference (CPC) perhaps exemplifies both what non-neurologists consider neurology to be, and what many neurologists consider to be the pinnacle of their art. A brave discussant is confronted by an invariably obscure and more often than not untreatable case which they are tasked with dissecting in full sight of their peers, armed only with his/her clinical acumen. While ostensibly the aim is to predict the correct diagnosis, equally if not more important is to take the audience on an entertaining journey, explaining the diagnostic thought processes en route. In the CPC reported in this edition of Practical Neurology, Rhys Davies admirably rises to this challenge, elegantly taking us through his reasoning, discarding a few red herrings along the way, before finally and correctly predicting the underlying diagnosis of Nasu-Hakola disease, a very rare genetic form of dementia associated with bone cysts.1

Cases presented in CPCs are of course poles apart from those encountered in routine neurological practice which is, quite rightly, …

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Footnotes

  • Twitter @jmschott

  • Contributors JMS is the sole author of this paper.

  • Funding The author acknowledges the support of the UCL/H NIHR Biomedical Research Centre

  • Competing interests JMS is Chief Medical Officer for Alzheimer's Research UK and Clinical Advisor to the UK Dementia Research Institute.

  • Provenance and peer review Commissioned; externally peer reviewed by Huw Morris, London, UK.

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