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Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration

Lookup NU author(s): Professor Nicola PaveseORCiD, Professor Johannes Attems



This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).


© BMJ Publishing Group Limited 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disease that can mimic other neurological disorders. We present a case of sCJD in a 64-year-old man that presented with corticobasal syndrome and survived for 3 years. He presented initially with dementia, hemiparkinsonism and alien limb phenomenon and was diagnosed with corticobasal degeneration, ultimately progressing to immobility and akinetic mutism. With a normal MRI 1 year before onset, his neuroimaging 1 year later revealed abnormal DaTscan, cortical and hippocampal atrophy with ventricular dilatation on MRI, and diffusion-weighted cortical ribboning and thalamic hyperintensity. Postmortem, the patient's brain was collected by the Parkinson's UK Tissue Bank. Prion protein immunohistochemistry revealed widespread diffuse microvacuolar staining without kuru-type plaques. Hyperphosphorylated tau was only found in the entorhinal cortex and hippocampus. This case highlights the clinical heterogeneity of sCJD presentation and the important inclusion of CJD in the differential diagnosis of atypical presentations of neurodegenerative disease.

Publication metadata

Author(s): Tilley BS, Smith C, Pavese N, Attems J

Publication type: Article

Publication status: Published

Journal: BMJ Case Reports

Year: 2019

Volume: 12

Issue: 3

Online publication date: 07/03/2019

Acceptance date: 15/02/2019

Date deposited: 19/03/2019

ISSN (electronic): 1757-790X

Publisher: BMJ Publishing Group


DOI: 10.1136/bcr-2018-228305

PubMed id: 30850568


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