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Chapter 109 : Transmissible Spongiform Encephalopathies

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Transmissible Spongiform Encephalopathies, Page 1 of 2

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Abstract:

Prion diseases or transmissible spongiform encephalopathies are neurodegenerative disorders affecting both humans and a broad range of animals. Prion diseases are unique transmissible entities where a misfolded, highly stable conformer (PrPSc) of the host-encoded cellular prion protein (PrPC) represents an essential component of infectious prions. Detection of PrPSc and prion infectivity by morphological and/or biochemical assays is key to diagnosis of these diseases. In this review, we summarize and discuss the current state-of-the-art reading diagnostic procedures and principles to diagnose and treat these diseases.

Citation: Glatzel M, Aguzzi A. 2015. Transmissible Spongiform Encephalopathies, p 1859-1866. In Jorgensen J, Pfaller M, Carroll K, Funke G, Landry M, Richter S, Warnock D (ed), Manual of Clinical Microbiology, Eleventh Edition. ASM Press, Washington, DC. doi: 10.1128/9781555817381.ch109
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Figures

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FIGURE 1

Deposition patterns of PrP in the brain. Shown are examples of specific deposition patterns of PrP. These become apparent upon immunolabeling with antibodies directed against the prion protein. The nomenclature of deposition patterns is indicated below histology. doi:10.1128/9781555817381.ch109.f1

Citation: Glatzel M, Aguzzi A. 2015. Transmissible Spongiform Encephalopathies, p 1859-1866. In Jorgensen J, Pfaller M, Carroll K, Funke G, Landry M, Richter S, Warnock D (ed), Manual of Clinical Microbiology, Eleventh Edition. ASM Press, Washington, DC. doi: 10.1128/9781555817381.ch109
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Image of FIGURE 2
FIGURE 2

Western blot analysis of PrP. Depicted are PrP types according to two proposed schemes ( ), which discriminate PrP types based on the mobility of the unglycosylated band of PrP and the signal intensity of PrP di-, mono-, and unglycosylated forms and the genotype of codon 129 on (M, methionine; V, valine). One scheme ( ) differentiates 4 principal PrP types (types 1 to 4). Three principal PrP types (1, 2a, and 2b) are proposed in the second scheme ( ). doi:10.1128/9781555817381.ch109.f2

Citation: Glatzel M, Aguzzi A. 2015. Transmissible Spongiform Encephalopathies, p 1859-1866. In Jorgensen J, Pfaller M, Carroll K, Funke G, Landry M, Richter S, Warnock D (ed), Manual of Clinical Microbiology, Eleventh Edition. ASM Press, Washington, DC. doi: 10.1128/9781555817381.ch109
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References

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1. Prusiner SB. 1998. Prions. Proc Natl Acad Sci USA 95:1336313383.
2. Aguzzi A,, Calella AM. 2009. Prions: protein aggregation and infectious diseases. Physiol Rev 89:11051152.
3. Colby DW,, Prusiner SB. 2011. De novo generation of prion strains. Nat Rev Microbiol 9:771777.
4. Silveira JR,, Raymond GJ,, Hughson AG,, Race RE,, Sim VL,, Hayes SF,, Caughey B. 2005. The most infectious prion protein particles. Nature 437:257261.
5. Head MW,, Ironside JW. 2012. The contribution of different prion protein types and host polymorphisms to clinicopathological variations in Creutzfeldt-Jakob disease. Rev Med Virol 22:214229.
6. Wuthrich K,, Riek R. 2001. Three-dimensional structures of prion proteins. Adv Protein Chem 57:5582.
7. Diaz-Espinoza R,, Soto C. 2012. High-resolution structure of infectious prion protein: the final frontier. Nat Struct Mol Biol 19:370377.
8. Gambetti P,, Puoti G,, Zou WQ. 2011. Variably protease-sensitive prionopathy: a novel disease of the prion protein. J Mol Neurosci 45:422424.
9. Sandberg MK,, Al-Doujaily H,, Sharps B,, Clarke AR,, Collinge J. 2011. Prion propagation and toxicity in vivo occur in two distinct mechanistic phases. Nature 470:540542.
10. Krasemann S,, Neumann M,, Szalay B,, Stocking C,, Glatzel M. 2013. Protease-sensitive prion species in neoplastic spleens of prion-infected mice with uncoupling of PrP(Sc) and prion infectivity. J Gen Virol 94:453463.
11. Collinge J,, Whitfield J,, McKintosh E,, Beck J,, Mead S,, Thomas DJ,, Alpers MP. 2006. Kuru in the 21st century—an acquired human prion disease with very long incubation periods. Lancet 367:20682074.
12. Geissen M,, Krasemann S,, Matschke J,, Glatzel M. 2007. Understanding the natural variability of prion diseases. Vaccine 25:56315636.
13. Ruegger J,, Stoeck K,, Amsler L,, Blaettler T,, Zwahlen M,, Aguzzi A,, Glatzel M,, Hess K,, Eckert T. 2009. A case-control study of sporadic Creutzfeldt-Jakob disease in Switzerland: analysis of potential risk factors with regard to an increased CJD incidence in the years 2001–2004. BMC Public Health 9:18.
14. Ladogana A,, Puopolo M,, Croes EA,, Budka H,, Jarius C,, Collins S,, Klug GM,, Sutcliffe T,, Giulivi A,, Alperovitch A,, Delasnerie-Laupretre N,, Brandel JP,, Poser S,, Kretzschmar H,, Rietveld I,, Mitrova E,, Cuesta Jde P,, Martinez-Martin P,, Glatzel M,, Aguzzi A,, Knight R,, Ward H,, Pocchiari M,, van Duijn CM,, Will RG,, Zerr I. 2005. Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada. Neurology 64:15861591.
15. Kovacs GG,, Puopolo M,, Ladogana A,, Pocchiari M,, Budka H,, van Duijn C,, Collins SJ,, Boyd A,, Giulivi A,, Coulthart M,, Delasnerie-Laupretre N,, Brandel JP,, Zerr I,, Kretzschmar HA,, de Pedro-Cuesta J,, Calero-Lara M,, Glatzel M,, Aguzzi A,, Bishop M,, Knight R,, Belay G,, Will R,, Mitrova E. 2005. Genetic prion disease: the EUROCJD experience. Hum Genet 118:166174.
16. Jansen C,, Parchi P,, Capellari S,, Vermeij AJ,, Corrado P,, Baas F,, Strammiello R,, van Gool WA,, van Swieten JC,, Rozemuller AJ. 2010. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. Acta Neuropathol 119:189197.
17. Slivarichova D,, Mitrova E,, Ursinyova M,, Uhnakova I,, Koscova S,, Wsolova L. 2011. Geographic accumulation of Creutzfeldt-Jakob disease in Slovakia—environmental metal imbalance as a possible cofactor. Cent Eur J Public Health 19:158164.
18. Will RG,, Alperovitch A,, Poser S,, Pocchiari M,, Hofman A,, Mitrova E,, de Silva R,, D’Alessandro M,, Delasnerie-Laupretre N,, Zerr I,, van Duijn C. 1998. Descriptive epidemiology of Creutzfeldt-Jakob disease in six European countries, 1993–1995. EU Collaborative Study Group for CJD. Ann Neurol 43:763767.
19. Will RG,, Ironside JW,, Zeidler M,, Cousens SN,, Estibeiro K,, Alperovitch A,, Poser S,, Pocchiari M,, Hofman A,, Smith PG. 1996. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 347:921925.
20. Hill AF,, Desbruslais M,, Joiner S,, Sidle KC,, Gowland I,, Collinge J,, Doey LJ,, Lantos P. 1997. The same prion strain causes vCJD and BSE. Nature 389:448450. (Letter.)
21. Ironside JW. 2012. Variant Creutzfeldt-Jakob disease: an update. Folia Neuropathol 50:5056.
22. Sneath PH. 2004. Estimation of the size of the vCJD epidemic. Antonie Van Leeuwenhoek 86:93103.
23. Brown P,, Brandel JP,, Sato T,, Nakamura Y,, MacKenzie J,, Will RG,, Ladogana A,, Pocchiari M,, Leschek EW,, Schonberger LB. 2012. Iatrogenic Creutzfeldt-Jakob disease, final assessment. Emerg Infect Dis 18:901907.
24. Walker LC,, Diamond MI,, Duff KE,, Hyman BT. 2013. Mechanisms of protein seeding in neurodegenerative diseases. JAMA Neurol 70:304310.
25. Jucker M,, Walker LC. 2011. Pathogenic protein seeding in Alzheimer disease and other neurodegenerative disorders. Ann Neurol 70:532540.
26. Puoti G,, Bizzi A,, Forloni G,, Safar JG,, Tagliavini F,, Gambetti P. 2012. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol 11:618628.
27. Zerr I,, Pocchiari M,, Collins S,, Brandel JP,, de Pedro Cuesta J,, Knight RS,, Bernheimer H,, Cardone F,, Delasnerie-Laupretre N,, Cuadrado Corrales N,, Ladogana A,, Bodemer M,, Fletcher A,, Awan T,, Ruiz Bremon A,, Budka H,, Laplanche JL,, Will RG,, Poser S. 2000. Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 55:811815.
28. Tschampa HJ,, Zerr I,, Urbach H. 2007. Radiological assessment of Creutzfeldt-Jakob disease. Eur Radiol 17:12001211.
29. Pauli G. 2005. Tissue safety in view of CJD and variant CJD. Cell Tissue Bank 6:191200.
30. Glatzel M,, Abela E,, Maissen M,, Aguzzi A. 2003. Extraneural pathologic prion protein in sporadic Creutzfeldt-Jakob disease. N Engl J Med 349:18121820.
31. Zanusso G,, Ferrari S,, Cardone F,, Zampieri P,, Gelati M,, Fiorini M,, Farinazzo A,, Gardiman M,, Cavallaro T,, Bentivoglio M,, Righetti PG,, Pocchiari M,, Rizzuto N,, Monaco S. 2003. Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt-Jakob disease. N Engl J Med 348:711719.
32. Hill AF,, Zeidler M,, Ironside J,, Collinge J. 1997. Diagnosis of new variant Creutzfeldt-Jakob disease by tonsil biopsy. Lancet 349:99.
33. Budka H,, Aguzzi A,, Brown P,, Brucher JM,, Bugiani O,, Gullotta F,, Haltia M,, Hauw JJ,, Ironside JW,, Jellinger K, , et al. 1995. Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol 5: 459466.
34. Schoch G,, Seeger H,, Bogousslavsky J,, Tolnay M,, Janzer RC,, Aguzzi A,, Glatzel M. 2005. Analysis of prion strains by PrP(Sc) profiling in sporadic Creutzfeldt-Jakob disease. PLoS Med 3:e14.
35. Parchi P,, Castellani R,, Capellari S,, Ghetti B,, Young K,, Chen SG,, Farlow M,, Dickson DW,, Sima AAF,, Trojanowski JQ,, Petersen RB,, Gambetti P. 1996. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 39:767778.
36. Parchi P,, Giese A,, Capellari S,, Brown P,, Schulz-Schaeffer W,, Windl O,, Zerr I,, Budka H,, Kopp N,, Piccardo P,, Poser S,, Rojiani A,, Streichemberger N,, Julien J,, Vital C,, Ghetti B,, Gambetti P,, Kretzschmar H. 1999. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46:224233.
37. Polymenidou M,, Stoeck K,, Glatzel M,, Vey M,, Bellon A,, Aguzzi A. 2005. Coexistence of multiple PrPSc types in individuals with Creutzfeldt-Jakob disease. Lancet Neurol 4:805814.
38. Uro-Coste E,, Cassard H,, Simon S,, Lugan S,, Bilheude JM,, Perret-Liaudet A,, Ironside JW,, Haik S,, Basset-Leobon C,, Lacroux C,, Peoch K,, Streichenberger N,, Langeveld J,, Head MW,, Grassi J,, Hauw JJ,, Schelcher F,, Delisle MB,, Andreoletti O. 2008. Beyond PrP9res type 1/type 2 dichotomy in Creutzfeldt-Jakob disease. PLoS Pathog 4:e1000029.
39. Windl O,, Dempster M,, Estibeiro JP,, Lathe R,, Desilva R,, Esmonde T,, Will R,, Springbett A,, Campbell TA,, Sidle KCL,, Palmer MS,, Collinge J. 1996. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom—a systematic analysis of predisposing mutations and allelic variation in the prnP gene. Human Genet 98:259264.
40. Glatzel M,, Stoeck K,, Seeger H,, Luhrs T,, Aguzzi A. 2005. Human prion diseases: molecular and clinical aspects. Arch Neurol 62:545552.
41. Stoeck K,, Sanchez-Juan P,, Gawinecka J,, Green A,, Ladogana A,, Pocchiari M,, Sanchez-Valle R,, Mitrova E,, Sklaviadis T,, Kulczycki J,, Slivarichova D,, Saiz A,, Calero M,, Knight R,, Aguzzi A,, Laplanche JL,, Peoc’h K,, Schelzke G,, Karch A,, van Duijn CM,, Zerr I. 2012. Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years. Brain 135:30513061.
42. Hamlin C,, Puoti G,, Berri S,, Sting E,, Harris C,, Cohen M,, Spear C,, Bizzi A,, Debanne SM,, Rowland DY. 2012. A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease. Neurology 79:547552.
43. Atarashi R,, Satoh K,, Sano K,, Fuse T,, Yamaguchi N,, Ishibashi D,, Matsubara T,, Nakagaki T,, Yamanaka H,, Shirabe S,, Yamada M,, Mizusawa H,, Kitamoto T,, Klug G,, McGlade A,, Collins SJ,, Nishida N. 2011. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 17:175178.
44. Miele G,, Seeger H,, Marino D,, Eberhard R,, Heikenwalder M,, Stoeck K,, Basagni M,, Knight R,, Green A,, Chianini F,, Wuthrich RP,, Hock C,, Zerr I,, Aguzzi A. 2008. Urinary alpha1-antichymotrypsin: a biomarker of prion infection. PLoS One 3:e3870.
45. Hill AF,, Joiner S,, Wadsworth JD,, Sidle KC,, Bell JE,, Budka H,, Ironside JW,, Collinge J. 2003. Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain 126: 13331346.

Tables

Generic image for table
TABLE 1

Human prion diseases: clinical, diagnostic, and neuropathological features

Citation: Glatzel M, Aguzzi A. 2015. Transmissible Spongiform Encephalopathies, p 1859-1866. In Jorgensen J, Pfaller M, Carroll K, Funke G, Landry M, Richter S, Warnock D (ed), Manual of Clinical Microbiology, Eleventh Edition. ASM Press, Washington, DC. doi: 10.1128/9781555817381.ch109
Generic image for table
TABLE 2

Disease-causing mutations in

Citation: Glatzel M, Aguzzi A. 2015. Transmissible Spongiform Encephalopathies, p 1859-1866. In Jorgensen J, Pfaller M, Carroll K, Funke G, Landry M, Richter S, Warnock D (ed), Manual of Clinical Microbiology, Eleventh Edition. ASM Press, Washington, DC. doi: 10.1128/9781555817381.ch109

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