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Neurodegeneration
Research paper
Imaging and CSF analyses effectively distinguish CJD from its mimics
  1. Peter Rudge1,2,
  2. Harpreet Hyare2,
  3. Alison Green3,
  4. John Collinge1,2,
  5. Simon Mead1,2
  1. 1 MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK
  2. 2 NHS National Prion Clinic, UCL Hospitals NHS Foundation Trust, London, UK
  3. 3 The National CJD Research and Surveillance Unit, Western General Hospital, London, UK
  1. Correspondence to Dr Peter Rudge, NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London NW1 2BU, UK; p.rudge{at}prion.ucl.ac.uk

Abstract

Objective To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis.

Methods Review the clinical findings and investigations in 214 patients enrolled into the UK National Prion Monitoring Cohort Study between October 2008 and November 2015 who had postmortem confirmed sCJD and compare these features with 50 patients referred over the same period who had an alternative final diagnosis (CJD mimics).

Results Patients with an alternative diagnosis and those with sCJD were of similar age, sex and frequency of dementia but CJD mimics had a longer clinical history. Myoclonus, rigidity and hallucinations were more frequent in patients with sCJD but these features were not helpful in classifying individual patients. Alzheimer’s disease, dementia with Lewy bodies and genetic neurodegenerative disorders were alternative diagnoses in more than half of the CJD mimic cases, and 10% had an immune-mediated encephalopathy; lymphoma, hepatic encephalopathy and progressive multifocal leukoencephalopathy were seen more than once. Diffusion-weighted MRI was the most useful readily available test to classify cases correctly (92% CJD, 2% CJD mimics). The CSF cell count, 14-3-3 protein detection and S100B were of limited value. A positive CSF RT-QuIC test, introduced during the course of the study, was found in 89% of tested CJD cases and 0% CJD mimics.

Conclusion The combination of diffusion-weighted MRI analysis and CSF RT-QuIC allowed a perfect classification of sCJD versus its mimics in this study.

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

https://doi.org/10.1136/jnnp-2017-316853

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    Footnotes

    • Contributors PR and SM designed and conducted the study. HH reviewed the imaging. AJEG analysed the CSF. All authors were involved in analysing the data and preparing the manuscript.

    • Funding The Cohort study was funded by the Department of Health (England) and the National Institute of Health Research’s Biomedical Research Centre at University College London Hospitals NHS Foundation Trust.

    • Competing interests JC is a director and shareholder of D-Gen Ltd (London), an academic spin-out company working in the field of prion disease diagnosis, decontamination and therapeutics.

    • Ethics approval Ethical review of the Cohort Study was done by Scotland MREC A.

    • Provenance and peer review Not commissioned; externally peer reviewed.