Neurol. praxi. 2024;25(1):19-25 | DOI: 10.36290/neu.2024.005

Human prion diseases - state of the art 2023

prof. MUDr. Egon Kurča, PhD., FESO, doc. MUDr. ©tefan Sivák, PhD., MUDr. Pavol Skáčik
Neurologická klinika JLF UK a UNM, Martin

Human prion diseases are a distinct group of fatal neurodegenerative diseases. Creutzfeldt-Jakob disease (CJD), a prototype of rapidly developing dementia, is the main representative. The article deals with the clinical and genetic correlates of CJD with an emphasis placed on the identification of genetic forms, including genetic counselling. In the case of acquired prion diseases, an interesting fact is the cessation of occurrence of kuru and variant CJD when targeted epidemiological measures have resulted in disrupting the transmission pattern of the pathological prion protein (PrPSc). As far as rare genetic prion diseases are concerned, the rarely diagnosed Gerstmann-Sträussler-Scheinker disease (GSS) as well as the unique fatal familial insomnia are discussed (FFI). The aim of the paper is to provide current information on human prion diseases.

Keywords: prion diseases, Creutzfeldt-Jakob disease, kuru, Gerstmann-Sträussler- Scheinker disease, fatal insomnia.

Received: October 5, 2023; Revised: November 29, 2023; Accepted: January 22, 2024; Prepublished online: January 22, 2024; Published: March 6, 2024  Show citation

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Kurča E, Sivák ©, Skáčik P. Human prion diseases - state of the art 2023. Neurol. praxi. 2024;25(1):19-25. doi: 10.36290/neu.2024.005.
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    References

    1. Alpers MP. Review. The epidemiology of kuru: monitoring the epidemic from its peak to its end. Philos Trans R Soc Lond B Biol Sci. 2008;363(1510):3707-13. doi: 10.1098/rstb.2008.0071. Go to original source... Go to PubMed...
    2. Appleby BS, Shetty S, Elkasaby M. Genetic aspects of human prion diseases. Front Neurol. 2022;13:1003056. doi: 10.3389/fneur.2022.1003056. Go to original source... Go to PubMed...
    3. Asante EA, Smidak M, Grimshaw A, et al. A naturally occurring variant of the human prion protein completely prevents prion disease. Nature. 2015;522(7557):478-81. doi: 10.1038/nature14510. Go to original source... Go to PubMed...
    4. Collinge J, Palmer MS, Dryden AJ. Genetic predisposition to iatrogenic Creutzfeldt­‑Jakob disease. Lancet. 1991;337(8755):1441-2. doi: 10.1016/0140-6736(91)93128-v. Go to original source... Go to PubMed...
    5. Condello C, Ayers JI, Dalgard CL et al. Guam ALS­‑PDC is a distinct double­‑prion disorder featuring both tau and Aβ prions. Proc Natl Acad Sci U S A. 2023;120(13):e2220984120. doi: 10.1073/pnas.2220984120. Go to original source... Go to PubMed...
    6. Corbett GT, Wang Z, Hong W, et al. PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration­‑causing proteins. Acta Neuropathol. 2020;139(3):503-526. doi: 10.1007/s00401-019-02114-9. Go to original source... Go to PubMed...
    7. Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol. 2018;153:271-299. doi: 10.1016/B978-0-444-63945-5.00015-5. Go to original source... Go to PubMed...
    8. Drobný M, Voąko MR, Kurča E, et al. Prolonged course of Creutzfeldt­‑Jakob disease with excessive central nervous system degeneration. Acta Clin Croat. 2004;43:33-38.
    9. Gajdusek DC, Zigas V. Kuru; clinical, pathological and epidemiological study of an acute progressive degenerative disease of the central nervous system among natives of the Eastern Highlands of New Guinea. Am J Med. 1959;26(3):442-69. doi: 10.1016/0002-9343(59)90251-7. Go to original source... Go to PubMed...
    10. Goldman JS, Vallabh SM. Genetic counseling for prion disease: Updates and best practices. Genet Med. 2022;24(10):1993-2003. doi: 10.1016/j.gim.2022. 06. 003. Go to original source...
    11. Grimaldi I, Leser FS, Janeiro JM, et al. The multiple functions of PrPC in physiological, cancer, and neurodegenerative contexts. J Mol Med (Berl). 2022;100(10):1405-1425. doi: 10.1007/s00109-022-02245-9. Go to original source... Go to PubMed...
    12. Hermann P, Appleby B, Brandel JP, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt­‑Jakob disease. Lancet Neurol. 2021;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. Go to original source... Go to PubMed...
    13. Hernaiz A, Toivonen JM, Bolea R, et al. Epigenetic Changes in Prion and Prion­‑like Neurodegenerative Diseases: Recent Advances, Potential as Biomarkers, and Future Perspectives. Int J Mol Sci. 2022; 23(20):12609. doi: 10.3390/ijms232012609. Go to original source... Go to PubMed...
    14. Hunter GD. Scrapie: a prototype slow infection. J Infect, DiS. 1972;125(4):427-40. doi: 10.1093/infdis/125. 4. 427. Go to original source...
    15. Chiesa R, Piccardo P, Quaglio E, et al. Molecular distinction between pathogenic and infectious properties of the prion protein. J Virol. 2003;77(13):7611-22. doi: 10.1128/jvi.77. 13. 7611-7622.2003. Go to original source...
    16. Chen C, Wang JC, Shi Q, et al. Analyses of the survival time and the influencing factors of chinese patients with prion diseases based on the surveillance data from 2008-2011. PLoS One. 2013;8(5):e62553. doi: 10.1371/journal.pone.0062553. Go to original source... Go to PubMed...
    17. Ironside JW. Variant Creutzfeldt­‑Jakob disease: risk of transmission by blood transfusion and blood therapies. Haemophilia. 2006;12 Suppl:8-15. doi: 10.1111/j.1365-2516.2006.01195.x. Go to original source... Go to PubMed...
    18. Iwasaki Y. Creutzfeldt­‑Jakob disease. Neuropathology. 2017;37:174-188. doi: 10.1111/neup.12355. Go to original source... Go to PubMed...
    19. Jeong BH, Nam JH, Lee YJ, et al. Polymorphisms of the prion protein gene (PRNP) in a Korean population. J Hum Genet. 2004;49(6):319-324. doi: 10.1007/s10038-004-0150-7. Go to original source... Go to PubMed...
    20. Jesuthasan A, Sequeira D, Hyare H, et al. Assessing initial MRI reports for suspected CJD patients. J Neurol. 2022;269(8):4452-4458. doi: 10.1007/s00415-022-11087-x. Go to original source... Go to PubMed...
    21. Jones E, Hummerich H, Viré E, et al. Identification of novel risk loci and causal insights for sporadic Creutzfeldt­‑Jakob disease: a genome­‑wide association study. Lancet Neurol. 2020;19(10):840-848. doi: 10.1016/S1474-4422(20)30273-8. Go to original source... Go to PubMed...
    22. Joshi T, Ahuja N. The Prion Basis of Progressive Neurodegenerative Disorders. Interdiscip Perspect Infect, DiS. 2023;2023:6687264. doi: 10.1155/2023/6687264. Go to original source... Go to PubMed...
    23. Kovacs GG, Budka H. Molecular pathology of human prion diseases. Int J Mol Sci. 2009;10:976-999. doi:10.3390/ijms10030976. Go to original source... Go to PubMed...
    24. Ladogana A, Kovacs GG. Genetic Creutzfeldt­‑Jakob disease. Handb Clin Neurol. 2018;153:219-242. doi: 10.1016/B978-0-444-63945-5.00013-1. Go to original source... Go to PubMed...
    25. Liberski PP, Gajos A, Sikorska B, et al. Kuru, the First Human Prion Disease. Viruses. 2019;11(3):232. doi: 10.3390/v11030232. Go to original source... Go to PubMed...
    26. Mead S. Prion disease genetics. Eur J Hum Genet. 2006;14(3):273-81. doi: 10.1038/sj.ejhg.5201544. Go to original source... Go to PubMed...
    27. Mead S, Burnell M, Lowe J, et al. Clinical trial simulations based on genetic stratification and the natural history of a functional outcome measure in Creutzfeldt­‑Jakob Disease. JAMA Neurol. 2016;73:447-55. doi: 10.1001/jamaneurol.2015.4885. Go to original source... Go to PubMed...
    28. Mead S, Gandhi S, Beck J, et al. A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med. 2013;369(20):1904-14. doi: 10.1056/NEJMoa1214747. Go to original source... Go to PubMed...
    29. Mead S, Khalili­‑Shirazi A, Potter C, et al. Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt­‑Jakob disease: evaluation of a first­‑in­‑human treatment programme. Lancet Neurol. 2022;21(4):342-354. doi: 10.1016/S1474-4422(22)00082-5. Go to original source... Go to PubMed...
    30. Mercer RCC, Harris DA. Mechanisms of prion­‑induced toxicity. Cell Tissue Res. 2023;392(1):81-96. doi: 10.1007/s00441-022-03683-0. Go to original source... Go to PubMed...
    31. Nagoshi K, Sadakane A, Nakamura Y, Yamada M, Mizusawa H. Duration of prion disease is longer in Japan than in other countries. J Epidemiol. 2011;21(4):255-62. doi: 10.2188/jea.je20100085. Go to original source... Go to PubMed...
    32. Napper S, Schatzl HM. Oral vaccination as a potential strategy to manage chronic wasting disease in wild cervid populations. Front Immunol. 2023;14:1156451. doi: 10.3389/fimmu.2023.1156451. Go to original source... Go to PubMed...
    33. National Creutzfeldt­‑Jakob Disease Research & Surveillance Unit (NCJDRSU) [online]. [cit. 27. 4. 2020]. Dostupné na: https://www.cjd.ed.ac.uk/sites/default/files/criteria_0.pdf.
    34. Peden AH, Head MW, Ritchie DL, et al. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet. 2004;364(9433):527-9. doi: 10.1016/S0140-6736(04)16811-6. Go to original source... Go to PubMed...
    35. Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science. 1982;216(4542):136-44. doi: 10.1126/science.6801762. Go to original source... Go to PubMed...
    36. Rhoads DD, Wrona A, Foutz A, et al. Diagnosis of prion diseases by RT­‑QuIC results in improved surveillance. Neurology. 2020;95(8):e1017-e1026. doi: 10.1212/WNL.0000000000010086. Go to original source... Go to PubMed...
    37. Rusina R, Fiala J, Holada K, et al. Gerstmann­‑Sträussler­‑Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt­‑Jakob disease: a case report and review of the literature. Neurocase. 2013;19(1):41-53. doi: 10.1080/13554794.2011.654215. Go to original source... Go to PubMed...
    38. Sailer A, Büeler H, Fischer M, et al. No propagation of prions in mice devoid of PrP. Cell. 1994;77(7):967-8. doi: 10.1016/0092-8674(94)90436-7. Go to original source... Go to PubMed...
    39. Schätzl HM, Da Costa M, Taylor L, et al. Prion protein gene variation among primates. J Mol Biol. 1995;245(4):362-74. doi: 10.1006/jmbi.1994.0030. Go to original source... Go to PubMed...
    40. Shim KH, Sharma N, An SSA. Prion therapeutics: Lessons from the past. Prion. 2022;16(1):265-294. doi: 10.1080/19336896.2022.2153551. Go to original source... Go to PubMed...
    41. Tesar A, Matej R, Kukal J, et al. Clinical Variability in P102L Gerstmann­‑Sträussler­‑Scheinker Syndrome. Ann Neurol. 2019;86(5):643-652. doi: 10.1002/ana.25579. Go to original source... Go to PubMed...
    42. Vallabh SM, Zou D, Pitstick R, et al. Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease. J Virol. 2023;97(2):e0167222. doi: 10.1128/jvi.01672-22. Go to original source... Go to PubMed...
    43. Watson N, Hermann P, Ladogana A, et al. Validation of Revised International Creutzfeldt­‑Jakob Disease Surveillance Network Diagnostic Criteria for Sporadic Creutzfeldt­‑Jakob Disease. JAMA Netw Open. 2022;5(1):e2146319. doi: 10.1001/jamanetworkopen.2021.46319. Go to original source... Go to PubMed...
    44. Yamaguchi K, Kamatari YO, Ono F, et al. A designer molecular chaperone against transmissible spongiform encephalopathy slows disease progression in mice and macaques. Nat Biomed Eng. 2019;3(3):206-219. doi: 10.1038/s41551-019-0349-8. Go to original source... Go to PubMed...

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