Creutzfeldt-Jakob disease – a series of four clinical cases

Authors

  • A. Karameshev Department of Neurology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author https://orcid.org/0009-0003-6340-4483
  • B. Yoshinov Department of Neurology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • P. Dimova Epilepsy Center and VEEG monitoring Unit, Department of Neurosurgery, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • R. Tanova Department of Anesthesiology and Intensive Care Medicine, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • M. Penkova Department of Radiology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • B. Kochmalarski Department of Radiology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • K. Mihaylova Department of Neurology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • D. Stoilova Department of Neurology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author
  • P. Shotekov Department of Neurology, University Hospital for Active Care “Sv. Ivan Rilski” – Sofia, Bulgaria Author

DOI:

https://doi.org/10.2478/AMB-2025-0064

Keywords:

Creutzfeldt-Jakob disease, dementia, myoclonus, EEG, MRI, case series

Abstract

Creutzfeldt-Jakob Disease (CJD) is a rare, progressive, and fatal degenerative brain disorder caused by prion proteins. The diagnosis of the disease is based on established criteria and biomarkers – cerebrospinal fluid analysis, real-time quaking induced conversion (RT-QulC), magnetic resonance imaging, electroencephalographic findings and brain biopsy. We present a series of four patients with confirmed CJD, followed in our clinical center. We discuss the current diagnostic approach in these patients.

References

Sikorska B, Liberski PP. Human prion diseases: from Kuru to variant Creutzfeldt-Jakob disease. Subcell Biochem. 2012;65:457-96. doi: 10.1007/978-94-007-5416-4_17.

Sitammagari KK, Masood W. Creutzfeldt Jakob Disease [Internet]. StatPearls, National Library of Medicine. Available at: www.ncbi.nlm.nih.gov/books/NBK507860/ Accessed June 21, 2024.

Green AJE, Thompson EJ, Stewart GE, et al. Use of 14−3−3 and other brain-specific proteins in CSF in the diagnosis of variant Creutzfeldt-Jakob disease. Journal of Neurology, Neurosurgery and Psychiatry. 2001;70(6):744–748. doi: 10.1136/jnnp.70.6.744.

Green AJE. RT-QuIC: a new test for sporadic CJD. Pract Neurol. 2019 Feb;19(1):49-55. doi: 10.1136/practneurol-2018-001935.

Wieser HG, Schindler K, Zumsteg D. EEG in Creutzfeldt-Jakob disease. Clin Neurophysiol. 2006 May;117(5):935-51. doi: 10.1016/j.clinph.2005.12.007.

Center of Disease Control. Clinical Overview of Creutzfeldt-Jakob Disease (CJD) [Internet]. Available at: www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/index.html. Assessed June 15, 2024.

Heinemann U, Krasnianski A, Meissner B, et al. Brain biopsy in patients with suspected Creutzfeldt-Jakob disease. J Neurosurg. 2008 Oct;109(4):735-41. doi: 10.3171/JNS/2008/109/10/0735.

Hermann P, Appleby B, Brandel JP, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. Erratum in: Lancet Neurol. 2021 Apr;20(4):e3. doi: 10.1016/S1474-4422(21)00069-7.).

Hermann P, Appleby B, Brandel JP, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4.

Steinhoff BJ, Zerr I, Glatting M, et al. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol. 2004 Nov;56(5):702-8. doi: 10.1002/ana.20261.

Downloads

Published

02.09.2025

Issue

Vol. 52 No. 3 (2025): Acta Medica Bulgarica

Section

CASE SERIES

License

Copyright (c) 2025 A. Karameshev, B. Yoshinov, P. Dimova, R. Tanova, M. Penkova, B. Kochmalarski, K. Mihaylova, D. Stoilova, P. Shotekov (Author)

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

You are free to share, copy and redistribute the material in any medium or format under these terms. 

How to Cite

Karameshev, A., Yoshinov, B., Dimova, P., Tanova, R., Penkov, M., Kochmalarski, B., Mihailova, K., Stoilova, D., & Shotekov, P. (2025). Creutzfeldt-Jakob disease – a series of four clinical cases. Acta Medica Bulgarica, 52(3), 72-77. https://doi.org/10.2478/AMB-2025-0064