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Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
  1. Meher Lad1,
  2. Rhys H Thomas1,2,
  3. Kirstie Anderson2,
  4. Timothy D Griffiths1,2
  1. 1 Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  2. 2 Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK
  1. Correspondence to Professor Timothy D Griffiths, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK; tim.griffiths{at}newcastle.ac.uk

Abstract

Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. A new biochemical test to measure serum cholesterol metabolites supersedes the skin biopsy and is practical and robust. It is treatable with miglustat, a drug that inhibits glycosphingolipid synthesis. We describe a patient, aged 22 years, with juvenile-onset Niemann-Pick type C who presented with seizures and a label of ‘cerebral palsy’. We describe the approach to this syndrome in general, and highlight the classical features and red flags that should alert a neurologist to this treatable condition.

  • metabolic disease
  • neurogenetics
  • eye movements
  • cerebellar ataxia
  • dementia

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Footnotes

  • Contributors ML drafted the article. RHT, KA and TDG revised the manuscript. All authors approved the final version.

  • Funding This study was funded by Wellcome Trust.

  • Competing interests RHT has received honoraria and meeting support from Bilal, Eisai, GW Pharma, LivaNova, Sanofi, UCB Pharma and Zogenix. He is an associate editor of Practical Neurology. KA has received meeting support from UCB and Lincoln Medical.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally reviewed by Charlotte Dawson, Birmingham, UK.

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