Neurol. praxi. 2024;25(1):36-40 | DOI: 10.36290/neu.2023.085

Creutzfeldt-Jakob disease phenocopy

prof. MUDr. Kateřina Menšíková, Ph.D., FEAN, MBA1, prof. MUDr. Radoslav Matěj, Ph.D.2, MUDr. Kruznev Singh Nijhar1, prof. MUDr. Petr Kaňovský, CSc., FEAN1
1 Neurologická klinika LF UP a FN Olomouc
2 Ústav patologie a molekulární medicíny 3. LF UK a FTN Praha

Creutzfeldt-Jakob disease (CJD) may have very heterogeneous clinical manifestations. At the same time, there is increasingly more neuropathological evidence of a growing number of cases whose presentation meets the clinical diagnostic criteria for possible CJD, but it is, in fact, not this disease; these CJD phenocopies, or mimics, are the most frequent cause of diagnostic error. The differential diagnosis of CJD is broad, encompassing a number of potentially treatable conditions; they can include various autoimmune, infectious, cancerous, and toxic-metabolic CNS disorders. CJD phenocopies are most commonly encountered in the case of neurodegenerative diseases in which this atypical manifestation is associated, in the vast majority of cases, with the presence of mixed pathology. It is also for this reason that, in the future, we will certainly not do without reliable biomarkers capable of detecting relevant types of neurodegenerative processes in the brain.

Keywords: Creutzfeldt-Jakob disease, CJD phenocopy, mixed pathologies.

Received: December 22, 2023; Revised: December 22, 2023; Accepted: December 29, 2023; Prepublished online: December 29, 2023; Published: March 6, 2024  Show citation

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Menšíková K, Matěj R, Singh Nijhar K, Kaňovský P. Creutzfeldt-Jakob disease phenocopy. Neurol. praxi. 2024;25(1):36-40. doi: 10.36290/neu.2023.085.
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    References

    1. Amano R, Tsukada S, Kosuge S, et al. Paraneoplastic Hashimoto's encephalopathy associated with Lymphomatosis cerebri with periodic synchronous discharges resembling Creutzfeldt­‑Jakob disease. Front Neurol. 2021;12:701178. doi: 10.3389/fneur.2021.701178. Go to original source... Go to PubMed...
    2. Collinge J. Prion disease of humans and animals: their causes and molecular basis. Ann Rev Neurosci. 2001;24:519-550. doi.org/10.1146/annurev.neuro.24.1.519. Go to original source... Go to PubMed...
    3. Forrest SL, Kovacs GG. Current concepts of mixed pathologies in neurodegenerative diseases. Can J Neurol Sci. 2023; 50(3):329-345. doi: 10.1017/cjn.2022.34. Go to original source... Go to PubMed...
    4. Geschwind MD, Tan KM, Lennon VA, et al. Voltage­‑gated potassium channel autoimmunity mimicking Creutzfeldt­‑jakob disease. Arch Neurol. 2008;65:1341-1346. doi: 10.1001/archneur.65.10.1341. Go to original source... Go to PubMed...
    5. Geschwind MD, Shu H, Haman A, et al. Rapidly progressive dementia. Ann Neurol. 2008;64:97-108. doi: 10.1016/j.ncl.2007.04.001. Go to original source... Go to PubMed...
    6. Chitravas N, Jung RS, Kofskey DM, et al. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol. 2011;70(3):437-444. doi:10.1002/ana.22454. Go to original source... Go to PubMed...
    7. Imperiale D, Taraglio S, Atzori C, et al. Multifocal necrozing leukoencephalopathy mimicking sporadic Creutzfeldt­‑Jakob disease. Eur Neurol. 2008;59(6):327-329. doi: 10.1159/000121425. Go to original source... Go to PubMed...
    8. Kimura M, Kimura H, Ishikawa H, et al. Hepatic encephalopathy mimicking Creutzfeldt­‑Jakob disease on laboratory, physiological and imaging evaluations. Am J Case Rep. 2021; 22:932958. doi: 10.12659/AJCR.932958. Go to original source... Go to PubMed...
    9. Lazar EB, Porter AL, Prusinski CC, et al. Improving early recognition of Creutzfeldt­‑Jakob disease mimics. Neurol Clin Pract. 2022;12(6): 406-413. doi: 10.1212/CPJ.0000000000200097. Go to original source... Go to PubMed...
    10. Liu J, Chen L, Yang J, et al. Anti-N-methyl-D-aspartate receptor encephalitis mimicking sporadic Creutzfeldt­‑Jakob disease. Front Neurol. 2020;11:593680. doi: 10.3389/fneur.2020.593680. Go to original source... Go to PubMed...
    11. Maat P, Beukelaar JW, Jansen C, et al. Pathologically confirmed autoimmune encephalitis in suspected Creutzfeldt­‑Jakob disease. Neurol Neuroimmunol Neuroinflamm. 2015; 2(6):e178. doi: 10.1212/NXI.0000000000000178. Go to original source... Go to PubMed...
    12. Mahad DJ, Staugaitis S, Ruggieri P, et al. Steroid­‑responsive encephalopathy associated with autoimmune thyroiditis and primary CNS demyelination. J Neurol Sci. 2005;228:3-5. doi: 10.1016/j.jns.2004.08. Go to original source...
    13. Mead S, Rudge P. CJD mimcs and chameleons. Pract Neurol. 2017;17:113-121. doi: 10.1136/practneurol-2016-001571. Go to original source... Go to PubMed...
    14. National CJD Research & Surveillance Unit. Diagnostic Criteria for Creutzfeldt-Jakob Disease. Published January 2017. Accessed December 28, 2021. Available from: https://www.cjd.ed.ac.uk/sites/default/files/criteria.pdf.
    15. Rudge P, Hyare H, Green A, et al. Imaging and CSF analyses effectively distinguish CJD from its mimics. J Neurol Neurosurg Psychiatry. 2018;89(5):461-466. doi:10.1136/jnnp-2017-3168538. Go to original source...
    16. Rusina R, Krajcovicova L, Srpova B, et al. Metastatic intracranial spread of adenocarcinoma mimicking Creutzfeldt-Jakob disease in two cases. Rev Neurol. 2021;177(8):1006-1008. doi. 10.1016/j.neurol.2020.12.009. Go to original source... Go to PubMed...
    17. Sanz ER, Cabeza MA, Portugal FS, et al. Lymhomatosis cerebri mimicking iatrogenic Creutzfeldt­‑Jakob disease. BMJ Case Rep. 2014. doi: 10.1136/bcr-2013-201246. Go to original source... Go to PubMed...
    18. Stone R, Archer JS, Kiernan M. Wernicke's encephalopathy mimicking variant Creutzfeldt­‑Jakob disease. Clin Neurosci. 2008;15(11):1308. doi: 10.1016/j.jocn.2007. 05. 022. Go to original source...
    19. Tschampa HJ, Neumann M, Zerr I, et al. Patients with Alzheimer's disease and dementia with Lewy bodies mistaken for Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry. 2001;71:33-39. doi: 10.1136/jnnp.71.1.33. Go to original source... Go to PubMed...
    20. Yoo JY, Hirsch LJ. Limbic encephalitis associated with anti­‑voltage gated potassium channel complex antibodies mimicking Creutzfeldt­‑Jakob disease. JAMA Neurol. 2014;71(1): 79-82. doi: 10.1001/jamaneurol.2013.5179. Go to original source... Go to PubMed...

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