5 Years of Activities of the National Reference Laboratory for Human Prion Diseases Attached to the Department of Pathology and Molecular Medicine of FTNsP: Our Experience and an Overview of Literature

Česká verzia

Authors: R. Matěj ¹; R. Rusina ²; F. Koukolík ¹
Authors place of work: Národní referenční laboratoř lidských TSE/CJN při Oddělení patologie a molekulární medicíny FTNsP, Praha ¹; Neurologická klinika IPVZ a FTNsP, Praha ²
Published in the journal: Cesk Slov Neurol N 2007; 70/103(6): 637-642
Category: Review Article

Poděkování: Autoři tímto děkují všem, kteří se na činnosti NRL v jejím průběhu podíleli či podílejí.
V abecedním pořadí pak zejména MUDr. Pavlu Bočanovi, CSc., RNDr. Miladě Matějčkové, ing. Janě Novákové, CSc., MUDr. Jakubu Sikorovi, ing. Aleně Srbové.

Summary

During the existence of the Czech National Reference Laboratory for Transmissive Spongiform Encephalopathies at the Department of Pathology and Molecular Medicine of Thomayer Teaching Hospital in Prague (the laboratory was established in July 2001) as many as 90 brains of patients with suspicion of Creutzfeldt-Jakob disease (CJD) have been examined. The histopathologic criteria for definite CJD were fulfilled in 50 cases. No case of the new variant of CJD has been detected in the Czech Republic. Recently, obligatory testing of brain tissue from corneal graft donors was established in the laboratory.

Key words:
prion diseases – Creutzfeldt-Jakob disease – neuropathology – diagnostics

Zdroje

1. Jirák R, Koukolík F. Demence. Neurobiologie, klinický obraz, terapie. Praha: Galén 2004.

2. Watts JC, Balachandran A, Westaway D. The expanding universe of prion diseases. PloS Pathog 2(3) http://pathogens.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.ppat.0020026

3. Smith PG, Cousens SN, d' Huillard Aignaux JN, Ward HJ, Will RG. The epidemiology of variant Creutzfeldt-Jakob disease. Curr Top Microbiol Immunol 2004; 284: 161–191.

4. Ladogana A, Puopolo M, Croes EA, Budka H, Jarius C, Collins S et al. Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada. Neurology 2005; 64(9): 1586-1591.

5. WHO: WHO Manual for Surveillance of Human Transmissible Spongiform Encephalopathies. (2003).

6. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A et al. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129: 2278-2287.

7. Sanchez-Juan P, Green A, Ladogana A, Cuadrado-Corrales N, Saanchez-Valle R, Mitrova E et al. CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 2006; 67: 637-643.

8. Hill AF, Joiner S, Wadsworth JD, Sidle KC, Bell JE, Budka H et al. Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain 2003; 126: 1333-1346.

9. Preusser M, Strobel T, Gelpi E, Eiler M, Broessner G, Schmutzhard E, Budka H. Alzheimer-type neuropathology in a 28 year old patient with iatrogenic Creutzfeldt-Jakob disease after dural grafting. J Neurol Neurosurg Psychiatry 2006; 77: 413-416.

10. Peden AH, Head MW, Ritchie DL, Bell JE, Ironside JW. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet 2004; 364: 527–529.

11. Ironside JW, Head MW. Neuropathology and molecular biology of variant Creutzfeldt-Jakob disease. Curr Top Microbiol Immunol 2004; 284: 133–159.

12. Ironside JW, Head MW, Bell JE, McCardle L, Will RG. Laboratory diagnosis of variant Creutzfeldt-Jakob disease. Histopathology 2000; 37: 1-9.

13. Glatzel M, Rogivue C, Ghani A, Streffer JR, Amsler L, Aguzzi A. Incidence of Creutzfeldt-Jakob disease in Switzerland.Lancet. 2002; 360: 139-141.

14. Kovács GG, Majtényi C. Creutzfeldt-Jakob disease in Hungary. Folia Neuropathol 2005; 43: 279-285.

15. Tabernero C, Polo JM, Sevillami MD, Muñoz R, Berciano J, Cabello A et al. Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family J Neurol Neurosurg Psychiatry 2000; 68:774-777.

16. Cali I, Castellani R, Yuan J, Al-Shekhlee A, Cohen ML, Xiao X et al. Classification of sporadic Creutzfeldt-Jakob disease revisited. Brain 2006; 129: 2266-2277.

17. Mitrová E, Mayer V, Jovankovičová V, Slivarichová, D, Sólová L. Creutzfeldt–Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data. Eur J Neurol 2005; 12: 998-1001.