Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia

Jairo Lizarazo, Aixa Xiomara Vargas, Rafael Olarte, David Andrés Lizarazo, .

Keywords: prions, prion proteins, prion diseases, Creutzfeldt-Jakob syndrome, dementia, biomarkers, cerebrospinal fluid

Abstract

Creutzfeldt-Jakob disease is a rare neurodegenerative disease caused by prions.
We present the case of a woman in the seventh decade of life with rapidly progressive dementia and myoclonus. Her brain magnetic resonance imaging revealed lesions in the basal nuclei, and the electroencephalogram showed periodic bilateral epileptiform discharges.
In the cerebrospinal fluid, the prion protein was detected using the real-time quaking-induced conversion test (RT-QuIC), and elevated levels of tau and 14-3-3 proteins. We emphasize the significance of determining the prion protein in the definitive diagnosis of this disease.

Downloads

Download data is not yet available.

References

Geschwind MD. Prion Diseases. Continuum (Minneap Minn). 2015;21:1612-38. https://doi.org/10.1212/CON.0000000000000251

Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021;20:235-46. https://doi.org/10.1016/S1474-4422(20)30477-4

European Centre for Disease Prevention and Control. Laboratory standard operating procedure for detecting sporadic Creuzfeldt-Jakob disease using Real-Time Quaking-Induced Conversion (RT-QuIC) assay. Stockholm: ECDC; 2021.

Centers for Disease Control and Prevention - CDC. Diagnostic criteria for Creutzfeldt-Jakob Disease (CJD), 2018. Accessed: December 14, 2023. Available at: https://www.cdc.gov/prions/cjd/diagnostic-criteria.html#print

Fiorini M, Iselle G, Perra D, Bongianni M, Capaldi S, Sacchetto L, et al. High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD. Int J Mol Sci. 2020;21:880. https://doi.org/10.3390/ijms21030880

Chatzikonstantinou S, Kazis D, Karantali E, Knights M, McKenna J, Petridis F, et al. A metaanalysis on RT-QuIC for the diagnosis of sporadic CJD. Acta Neurol Belg. 2021;121:341-49. https://doi.org/10.1007/s13760-021-01596-3

Green AJE. RT-QuIC: A new test for sporadic CJD. Pract Neurol. 2019;19:49-55. https://doi.org/10.1136/practneurol-2018-001935

Escandón-Vargas K, Zorrilla-Vaca A, Corral-Prado RH. Proteínas 14-3-3 y tau positivas en un caso de enfermedad esporádica de Creutzfeldt-Jakob y una breve reseña de las enfermedades priónicas en Colombia. Biomédica. 2016;36:29-36. https://doi.org/10.7705/biomedica.v36i3.2729.

Paredes A, Castro A, Toro G, Parra E. Vigilancia epidemiológica de enfermedades priónicas en Colombia, 2005 a 2012. IQEN 2013;18:32-41.

Mantilla YF, Muñoz MA, Pérez CE, Rodríguez I, Cañón S, Tuta EA. Enfermedad de Creutzfeldt-Jakob. Presentación de un caso y revisión de la literatura. Rev Med. 2019;27. https://revistas.unimilitar.edu.co/index.php/rmed/article/view/3759

Vallejo DE, Molina SM, Erazo MM. Abordaje paliativo domiciliario: delirium refractario en enfermedad de Creutzfeldt-Jakob. Reporte de caso. Rev Med Sanitas. 2021:24: 29-34. https://doi.org/10.26852/01234250.451

López SL, Restrepo F, Moreno LF, Delgado A, Vidal MA. Aporte de la 18F-FDG PET/TC en la enfermedad de Creutzfeldt-Jakob esporádica. Rev Colomb Radiol. 2021;32: 5600-3. https://doi.org/10.53903/01212095.107

Cazzaniga FA, Bistaffa E, De Luca CMG, Bufano G, Indaco A, Giaccone G, et al. Sporadic Creutzfeldt-Jakob disease: Real-Time Quaking Induced Conversion (RT-QuIC) assay represents a major diagnostic advance. Eur J Histochem. 2021;65(Supp.1):3298. https://doi.org/10.4081/ejh.2021.3298

Poleggi A, Baiardi S, Ladogana A, Parchi P. The use of real-time quaking-induced conversion for the diagnosis of human prion diseases. Front Aging Neurosci. 2022;14:874734. https://doi.org/10.3389/fnagi.2022.874734

Kretzschmar HA, Ironside JW, DeArmond SJ, Tateishi J. Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol. 1996;53:913-20. https://doi.org/10.1001/archneur.1996.00550090125018

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

Young GS, Geschwind MD, Fischbein NJ, Martindale JL, Henry RG, Liu S, et al. Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: High sensitivity and specificity for diagnosis. Am J Neuroradiol. 2005;26:1551-62.

Vitali P, Maccagnano E, Caverzasi E, Henry RG, Haman A, Torres-Chae C, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011;76:1711-9. https://doi.org/10.1212/WNL.0b013e31821a4439

Fragoso DC, Gonçalves Filho AL, Pacheco FT, Barros BR, Aguiar Littig I, Nunes RH, et al. Imaging of Creutzfeldt-Jakob Disease: Imaging patterns and their differential diagnosis. Radiographics. 2017;37:234-257. https://doi.org/10.1148/rg.2017160075

Xiao K, Yang X, Zhou W, Chen C, Shi Q, Dong X. Validation and application of skin RT-QuIC to patients in China with probable CJD. Pathogens. 2021;10:1642. https://doi.org/10.3390/pathogens10121642

Wilham JM, Orrú CD, Bessen RA, Atarashi R, Sano K, Race B, et al. Rapid end-point quantitation of prion seeding activity with sensitivity comparable to bioassays. PLoS Pathog. 2010;6:e1001217. https://doi.org/10.1371/journal.ppat.1001217

Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 2011;17:175-8. https://doi.org/10.1038/nm.2294

Miranda LHL, Oliveira AFPH, Carvalho DM, Souza GMF, Magalhães JGM, Júnior JAC, et al. Systematic review of pharmacological management in Creutzfeldt-Jakob disease: No options so far? Arq Neuropsiquiatr. 2022;80:837-44. https://doi.org/10.1055/s-0042-1755341

How to Cite
1.
Lizarazo J, Vargas AX, Olarte R, Lizarazo DA. Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia. Biomed. [Internet]. 2024 Nov. 6 [cited 2025 Apr. 5];44(4):434-40. Available from: https://revistabiomedicaorg.biteca.online/index.php/biomedica/article/view/7352

Some similar items:

Published
2024-11-06
Section
Case presentation

Altmetric

Article metrics
Abstract views
Galley vies
PDF Views
HTML views
Other views
Crossref Cited-by logo
QR Code