Human Prion Diseases
Published
Nov 12, 2013
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Abstract
Prions are proteinaceous particles that due to an alteration of its secondary structure on a post-translational process, they can become infectious pathogens responsible for Transmissible Spongiform Encephalopaties (TSEs). The most common TSE in humans is the Creutzfeldt-Jakob Disease (CJD), which can be divided into 4 forms according to its cause and its clinico-pathological presentation: Sporadic CJD, Genetic CJD, Iatrogenic CJD and Variant CJD. This disease has an annual incidence of 1 case per million and is manifested as a rapidly progressive dementia in middle-aged and elderly persons. This article presents a systematic review on CJD based on articles published in the past ten years from MedLine and Embase databases
Keywords
prion, síndrome de Creuztfeldt-Jakob, demencia, Prion, Creutzfeldt-Jakob syndrome, dementia,
References
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6. Torres M, Cartier L, Matamala JM, Hernández N, Woehlbier U, Hetz C. Altered prion protein expression pattern in CSF as a biomarker for Creutzfeldt-Jakob disease. PLoS One.2012;7(4).
7. Ironside JW. Variant Creutzfeldt-Jakob Disease. Haemophilia. 2010;16:175-80.
8. Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012;11:618-28.
9. Safar JG. Molecular pathogenesis of sporadic prion diseases in man. Prion. 2012;6(2):108-15.
10. Oxford University Press on Behalf of the Guarantors of Brain. Sporadic Creutzfeldt-Jakob disease: discrete subtypes or a spectrum of disease? Brain. 2009;132:2627-9.
11. Hill AF, et al. Molecular classification of sporadic Creutzfeldt-akob disease. Brain. 2003;126:1333-46.
12. Oxford University Press on Behalf of the Guarantors of Brain. Sporadic Creutzfeldt-Jakob disease: further twists and turns in a convoluted protein. Brain. 2006;129:2238-40.
13. Sanchez-Juan P, Bishop MT, Croes EA, Knight RS, Will RG, van Duijn CM, Manson JC. A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease. BMC Med Genet. 2011;12(73):1-6.
14. Imran M, Mahmood S. An overview of human prion diseases. Virol J. 2001;8:559.
15. Parchi P, Cescatti M, Notari S, Schulz-Schaeffer WJ, Capellari S, Giese A. Agent strain variation in human prion disease: insights from a molecular and pathological review of the National Institutes of Health series of experimentally transmitted disease. Brain. 2010;133:3030-42.
16. Knight RSG, Will RG. Prion diseases. J Neurol Neurosurg Psychiatry. 2004;75:i36-42.
17. Knight R. Creutzfeldt-Jakob disease: a rare cause of dementia in elderly persons. Clin Infect Dis. 2006 Aug 1;43(3):340-6.
18. Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol. 2010;23(4):277-98.
19. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132(Pt 10):2659-68.
20. Krasnianski A, Schulz-Schaeffer WJ, Kallenberg K, Meissner B, Collie DA, Roeber S, et al. Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD. Brain. 2006;129:2288-96.
21. Macfarlane RG, Wroe SJ, Collinge J, Yousry TA, Jäger HR. Neuroimaging findings in human prion disease. J Neurol Neurosurg Psychiatry. 2007;78:664-70.
22. Riva-Amarante E, Jiménez-Huete A, Toledano R, Calero M, Alvarez-Linera J, Escribano J, et al. Usefulness of high b-value diffusion-weighted MRI in the diagnosis of Creutzfeldt-Jakob disease. Neurología. 2011;26(6):331-6.
23. Zhang WJ, Westover MB, Keary CJ. Premortem diagnosis of sporadic Creutzfeldt-Jakob disease aided by positron-emission tomography imaging. AJNR Am J Neuroradiol. 2011 Jan;32(1):E18. doi: 10.3174/ajnr.A2292.
24. Ladogana A, Sanchez-Juan P, Mitrová E, Green A, Cuadrado-Corrales N, Sánchez-Valle R, et al. Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol. 2009;256(10):1620-28.
25. Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: Diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2012;79.
26. Oeckl P, Steinacker P, Lehnert S, Jesse S, Kretzschmar HA, Ludolph AC, et al. CSF concentrations of cAMP and cGMP are lower in patients with Creutzfeldt-Jakob disease but not Parkinson’s disease and amyotrophic lateral sclerosis. PLoS One. 2012;7(3).
27. Singh A, Beveridge AJ, Singh N. Decreased CSF transferrin in sCJD: a potential pre-mortem diagnostic test for prion disorders. PLos One. 2011;6(3):1-10.
2. Cohen OS, Prohovnik I, Korczyn AD, Inzelberg R, Nitsan Z, Appel S, et al. Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation. Isr Med Assoc J. 2012;14(3):162-5.
3. Norrby E. Prions and protein-folding diseases. J Intern Med. 2011;270:1-14.
4. Ryou C. Prions and prion diseases: fundamentals and mechanistic details. J Microbiol Biotechnol. 2007;17(7):1059-70.
5. Haïk S, Brandel J-P. Biochemical and strain properties of CJD prions: Complexity versus simplicity. J Neurochem. 2011;119:251-61.
6. Torres M, Cartier L, Matamala JM, Hernández N, Woehlbier U, Hetz C. Altered prion protein expression pattern in CSF as a biomarker for Creutzfeldt-Jakob disease. PLoS One.2012;7(4).
7. Ironside JW. Variant Creutzfeldt-Jakob Disease. Haemophilia. 2010;16:175-80.
8. Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012;11:618-28.
9. Safar JG. Molecular pathogenesis of sporadic prion diseases in man. Prion. 2012;6(2):108-15.
10. Oxford University Press on Behalf of the Guarantors of Brain. Sporadic Creutzfeldt-Jakob disease: discrete subtypes or a spectrum of disease? Brain. 2009;132:2627-9.
11. Hill AF, et al. Molecular classification of sporadic Creutzfeldt-akob disease. Brain. 2003;126:1333-46.
12. Oxford University Press on Behalf of the Guarantors of Brain. Sporadic Creutzfeldt-Jakob disease: further twists and turns in a convoluted protein. Brain. 2006;129:2238-40.
13. Sanchez-Juan P, Bishop MT, Croes EA, Knight RS, Will RG, van Duijn CM, Manson JC. A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease. BMC Med Genet. 2011;12(73):1-6.
14. Imran M, Mahmood S. An overview of human prion diseases. Virol J. 2001;8:559.
15. Parchi P, Cescatti M, Notari S, Schulz-Schaeffer WJ, Capellari S, Giese A. Agent strain variation in human prion disease: insights from a molecular and pathological review of the National Institutes of Health series of experimentally transmitted disease. Brain. 2010;133:3030-42.
16. Knight RSG, Will RG. Prion diseases. J Neurol Neurosurg Psychiatry. 2004;75:i36-42.
17. Knight R. Creutzfeldt-Jakob disease: a rare cause of dementia in elderly persons. Clin Infect Dis. 2006 Aug 1;43(3):340-6.
18. Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol. 2010;23(4):277-98.
19. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132(Pt 10):2659-68.
20. Krasnianski A, Schulz-Schaeffer WJ, Kallenberg K, Meissner B, Collie DA, Roeber S, et al. Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD. Brain. 2006;129:2288-96.
21. Macfarlane RG, Wroe SJ, Collinge J, Yousry TA, Jäger HR. Neuroimaging findings in human prion disease. J Neurol Neurosurg Psychiatry. 2007;78:664-70.
22. Riva-Amarante E, Jiménez-Huete A, Toledano R, Calero M, Alvarez-Linera J, Escribano J, et al. Usefulness of high b-value diffusion-weighted MRI in the diagnosis of Creutzfeldt-Jakob disease. Neurología. 2011;26(6):331-6.
23. Zhang WJ, Westover MB, Keary CJ. Premortem diagnosis of sporadic Creutzfeldt-Jakob disease aided by positron-emission tomography imaging. AJNR Am J Neuroradiol. 2011 Jan;32(1):E18. doi: 10.3174/ajnr.A2292.
24. Ladogana A, Sanchez-Juan P, Mitrová E, Green A, Cuadrado-Corrales N, Sánchez-Valle R, et al. Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol. 2009;256(10):1620-28.
25. Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: Diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2012;79.
26. Oeckl P, Steinacker P, Lehnert S, Jesse S, Kretzschmar HA, Ludolph AC, et al. CSF concentrations of cAMP and cGMP are lower in patients with Creutzfeldt-Jakob disease but not Parkinson’s disease and amyotrophic lateral sclerosis. PLoS One. 2012;7(3).
27. Singh A, Beveridge AJ, Singh N. Decreased CSF transferrin in sCJD: a potential pre-mortem diagnostic test for prion disorders. PLos One. 2011;6(3):1-10.
How to Cite
Barashi Gozal, N. S., Vargas Acevedo, C., & Alfonso Zarco, L. (2013). Human Prion Diseases. Universitas Medica, 54(4), 495–516. https://doi.org/10.11144/Javeriana.umed54-4.ephu
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Short Reviews