Human prion diseases in the Czech Republic
Authors:
Z. Rohan 1; R. Rusina 2,3; M. Marešová 4; R. Matěj 1,2
Authors‘ workplace:
Národní referenční laboratoř pro lidská prionová onemocnění, Oddělení patologie a molekulární medicíny, Thomayerova nemocnice, Praha
1; Neurologická klinika a Centrum klinických neurověd, Univerzita Karlova v Praze, 1. lékařská fakulta a Všeobecná fakultní nemocnice v Praze
2; Oddělení neurologie, Thomayerova nemocnice, Praha
3; Protiepidemické oddělení HSHMP, pobočka Praha-jih
4
Published in:
Epidemiol. Mikrobiol. Imunol. 64, 2015, č. 3, s. 115-120
Category:
Review Article
Overview
Human prion diseases are a group of very rare diseases with a unique pathogenesis and, due to an inauspicious prognosis and unavailability of therapy, with fatal consequences. The etiopathogenetic background is the presence of pathologically misfolded prion protein, highly resistant to denaturation, the aggregation and presence of which in the brain tissue causes irreversible neuronal damage. The most frequent prion disease in humans is Creutzfeldt-Jakob disease (CJD) which occurs in sporadic, hereditary/familial, or acquired/infectious/iatrogenic forms. A new form of CJD, variant CJD, is considered to be linked to dietary exposure to beef products from cattle infected with bovine spongiform encephalopathy (BSE) and to infection via blood transfusion. The clinical picture of these diseases is characterized by a rapidly progressing dementia, cerebellar and extrapyramidal symptoms, and rather specific MRI, EEG, and CSF findings. Clinically, the diagnosis is described as possible or probable prion disease and needs to be confirmed by neuropathological or immunological investigation of the brain tissue. Epidemiological data from the Czech Republic spanning the last decade are presented.
Key words:
neurodegenerative disease – transmissible spongiform encephalopathy – prion protein – Creutzfeldt-Jakob disease – Gerstmann-Sträussler-Scheinker
Sources
1. Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science, 1982;216(4542):136–144.
2. Pastore A, Zagari A. A structural overview of the vertebrate prion proteins. Prion, 2007;1(3):185–197.
3. Beneš J. Infekční lékařství. Praha: Galén; 2009.
4. Aguzzi A, Sigurdson C, Heikenwaelder M. Molecular mechanisms of prion pathogenesis. Annu Rev Pathol, 2008;3:11–40.
5. Aguzzi A, Falsig J. Prion propagation, toxicity and degradation. Nat Neurosci, 2012;15(7):936–939.
6. Capellari S, Strammiello R, Saverioni D, et al. Genetic Creutzfeldt--Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. Acta Neuropathol, 2011;121(1):21–37.
7. Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain, 2009;132(Pt 10):2659–2668.
8. Parchi P, Strammiello R, Giese A, et al. Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future. Acta Neuropathol, 2011;121(1):91–112.
9. Schuette AJ, Taub JS, Hadjipanayis CG, et al. Open biopsy in patients with acute progressive neurologic decline and absence of mass lesion (Podcast)(CME). Neurology, 2010;75(5):419–424.
10. Hsiao K, Meiner Z, Kahana E, et al. Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl J Med, 1991;324(16):1091–1097.
11. Mitrova E, Belay G. Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. Acta Virol, 2002;46(1):31–39.
12. Kovacs GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet, 2005;118(2):166–174.
13. Matej R, Kovacs GG, Johanidesova S, et al. Genetic Creutzfeldt--Jakob disease with R208H mutation presenting as progressive supranuclear palsy. Mov Disord, 2012;27(4):476–479.
14. D’Alessandro M, Petraroli R, Ladogana A, et al. High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy. Lancet, 1998;352(9145):1989–1990.
15. Chapman J, Ben-Israel J, Goldhammer Y, et al. The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. Neurology, 1994;44(9):1683–1686.
16. Brown P, Brandel JP, Sato T, et al. Iatrogenic Creutzfeldt-Jakob disease, final assessment. Emerg Infect Dis, 2012;18(6):901–907.
17. Will RG, Ironside JW, Zeidler M, et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet, 1996;347(9006):921–925.
18. Hewitt PE, Llewelyn CA, Mackenzie J, et al. Creutzfeldt–Jakob disease and blood transfusion: results of the UK Transfusion Medicine Epidemiological Review study. Vox Sang, 2006;91(3):221–230.
19. Current data on variant CJD cases worldwide. Dostupný na www: http://www.cjd.ed.ac.uk/data.html.
20. Heath CA, Cooper SA, Murray K, et al. Validation of diagnostic criteria for variant Creutzfeldt-Jakob disease. Ann Neurol, 2010;67(6):761–770.
21. Zeidler M, Sellar RJ, Collie DA, et al. The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease. Lancet, 2000;355(9213):1412–1418.
22. Hill AF, Butterworth RJ, Joiner S, et al. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet, 1999;353(9148):183–189.
23. Hill AF, Zeidler M, Ironside J, et al. Diagnosis of new variant Creutzfeldt-Jakob disease by tonsil biopsy. Lancet, 1997;349(9045):99–100.
24. Bruce ME, McConnell I, Will RG, et al. Detection of variant Creutzfeldt-Jakob disease infectivity in extraneural tissues. Lancet, 2001;358(9277):208–209.
25. Lugaresi E, Medori R, Montagna P, et al. Fatal Familial Insomnia and Dysautonomia with Selective Degeneration of Thalamic Nuclei. N Engl J Med, 1986;315(16):997–1003.
26. Medori R, Tritschler H-J, LeBlanc A, et al. Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene. N Engl J Med, 1992;326(7):444–449.
27. Montagna P, Gambetti P, Cortelli P, et al. Familial and sporadic fatal insomnia. Lancet Neurol, 2003;2(3):167–176.
28. Gajdusek DC and Zigas V. Degenerative disease of the central nervous system in New Guinea; the endemic occurrence of kuru in the native population. N Engl J Med, 1957;257(20):974–978.
29. WHO. WHO manual for surveillance of human transmissible spongiform encephalopathies, including variant Creutzfeldt-Jakob disease. 2003.
30. Toledo JB, Brettschneider J, Grossman M, et al. CSF biomarkers cutoffs: the importance of coincident neuropathological diseases. Acta Neuropathol, 2012;124(1):23–35.
31. Rohan Z, Parobkova E, Johanidesova S, et al. [Human Prion Diseases in the Czech Republic – 10 Years of Experience with the Diagnosis]. Cesk Slov Neurol N, 2013;76(109)(3):300–306.
32. Vyhláška č. 422/2008 Sb., o stanovení bližších požadavků pro zajištění jakosti a bezpečnosti lidských tkání a buněk určených k použití u člověka.
33. Jirsova K, Krabcova I, Novakova J, et al. The assessment of pathogenic prions in the brains of eye tissue donors: 2-years experience in the Czech Republic. Cornea, 2010;29(9):996–999.
34. Metodický list TSE/CJN, surveillance, diagnóza a terapie transmisivních spongiformních encefalopatií a Creutzfeldt-Jakobovy nemoci. 2000.
35. Vyhláška č. 143/2008 Sb., o stanovení bližších požadavků pro zajištění jakosti a bezpečnosti lidské krve a jejich složek (vyhláška o lidské krvi).
36. Zákon č. 285/2002 Sb., o darování, odběrech a transplantacích tkání a orgánů a o změně některých zákonů (transplantační zákon).
37. Metodický list TSE/CJN, surveillance, diagnóza a terapie transmisivních spongiformních encefalopatií a Creutzfeldt-Jakobovy nemoci.
38. WHO. WHO Guidelines on Tissue Infectivity Distribution in Transmissible spongiform Encephalopathies. WHO Press; 2006.
39. Vyhláška č. 306/2012 Sb., o podmínkách předcházení vzniku a šíření infekčních onemocnění a o hygienických požadavcích na provoz zdravotnických zařízení a ústavů sociální péče.
Labels
Hygiene and epidemiology Medical virology Clinical microbiologyArticle was published in
Epidemiology, Microbiology, Immunology
2015 Issue 3
Most read in this issue
- Human prion diseases in the Czech Republic
- Ganciclovir treatment failure in adult allogeneic hematopoietic stem cell transplant recipients with cytomegalovirus infection – a single centre experience
- Detection of biofilm formation by selected pathogens relevant to the food industry
- Report on a measles epidemic in the Ústí nad Labem Region