A case of sporadic Creutzfeldt – Jakob disease and discussion on diagnostic biomarkers

Open access

Abstract

Creutzfeldt - Jakob disease (CJD) is a rare neurodegenerative disease caused by prions, characterized by a progressive dementia with rapid onset, psychiatric and neurologic symptoms (myoclonus, cerebellar, pyramidal, extrapyramidal and visual signs), with an invariable course to exitus. There are three general forms: sporadic or spontaneous, genetic or familial, and acquired form, including a variant form of CJD. The diagnosis can be confirmed only by histological examination of brain tissue, showing non-inflammatory spongiform changes and neuronal loss. We present the case of a 64 years old male who was admitted in our department for a rapidly progressive cognitive decline, hallucinations and myoclonus. Autopsy brain histology confirmed the diagnosis showing incipient spongiform vacuolization and astrogliosis. This paper illustrates a very rapid course of a sporadic CJD with discussion upon literature regarding the laboratory and pathology biomarkers of diagnosis.

1. Prusiner SB, Neurodegenerative diseases and prions, N Engl J Med. 2001;344:1516-26.

2. Gambetti P, Kong Q, Zou W, Parchi P, G Chen SG, Sporadic and familial CJD: classification and characterization, British Medical Bulletin. 2003;66, 214.

3. Sadowski M, Verma A, Wisniewski T, Chapter 59. Infectious of the nervous system. Prion Diseases, in Bradley WG, Daroff RB, Fenichel GM, Jankovic J, Neurology in clinical practice, Elsevier. 2004;II:1616-17.

4. Beauvais P, Billette de Villemeur T, Maladie à prion ou encéphalopathies spongiformes transmissibles, Encyclopédie medico - chirurgicale. 17-056-a-40:10-14.

5. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heidemann U et al., Updated Clinical Diagnostic Criteria for Sporadic Creutzfeldt - Jakob disease, Brain 2009;132:2659-2668.

6. WHO Infection Control Guidelines for Transmissible Encephalopathies Geneva, Switzerland, 1999: who.int/csr/publication/bse/who_cds_csr_aph_2000_3/en.

7. Javed Q, Alam FS., Jaganathan G, An unusual case of sporadic Creutzfeldt-Jakob disease (CJD), BMJ Case Rep. 2010;PMCID: PMC3047567.

8. Jansen C, Parchi P, Capellari S, Human HYPERLINK "http://www.ncbi.nlm.nih.gov/pubmed/22558438"prion-HYPERLINK "http://www.ncbi.nlm.nih.gov/pubmed/22558438" diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects, PLoS One. 2012;7(4):e36333; PMID:22558438.

9. Hachiya NS, Imagawa M, Kaneko, K, The possible role of protein X, a putative auxiliary factor in pathological prion replication, in regulating a physiological endoproteolytic cleavage of cellular prion protein. Med. Hypotheses, 2007;68(3):670-63.

10. Olanow CW, Brundin P, Parkinson’s disease and alpha synuclein: is Parkinson’s disease a prion-like disorder?, Mov Disord, 2013;28:31-40.doi: 10.1002/mds.25373.

11. Tayebi M, Jones DR, Taylor WA, Stileman BF, Chapman C, Zhao D, David M, PrPSc-Specific Antibodies with the Ability to Immunodetect Prion Oligomers, PLoS ONE 2011;6(5): e19998. doi:10.1371/journal.- pone.0019998.

12. Obsil T, Ghirlando R, Klein DC, Ganguly S, Dyda F. Crystal structure of the 14-3-3 zeta: serotonin N-acetyltransferase complex. A role for scaffolding in enzyme regulation, Cell 2001, Apr 20;105(2):257-67.

13. Baert LA, Knauth M, Inflammatory Diseases of the Brain, Springer 2009:113-123.

14. Beaudry P, Cohen P, Brandel JP, Delasnerie - Lauprêtre N, Richard S, Launay JM, Laplanche JL, 14-3-3 protein, neuron specific enolase and S-100 protein in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease, Dement Geriatr Cogn Disorder. 1999 Jan- Feb;10(1):40-6.

15. Reiniger L, Lukic A, Linehan J, Rudge P, Colinge J, Mead S, Bradner S, Tau, prions and Aβ: the triad of neurodegeneration, Acta Neuropathol. 2011 Jan;121(1):5-20.

16. Vander T, Hallevy T, Alsaed I, Valdman S, Ifergane G, Wirguin I, 14-3-3 protein in the CSF of a patient with Hashimoto’s encephalopathy, J Neurol. 2004 Oct; 251(10):1273-1274.

17. Süssmuth SD, Hansoto R, Tumani H, Tau protein in CSF: a blood-CSF barrier related evaluation in patients with various neurological diseases, Neuroscience Letters, 2001; 300:95-98.

18. Ferenczy MW, Marshall LJ, Nelson CD, Atwood WJ, Nath A, Khalili K, Major EO, Molecular biology, epidemiology and pathogenesis of progressive multifocal leukoencephalopathy, the JC virus-induced demyelinating disease of the brain. Clin Microbiol Rev. 2012 Jul;25(3):471-506. doi:10.1128/CMR.0503-11.

19. Schröter A, Zerr I, Henkel K, Tschampa HJ Finkelstaedt M, Poser S, Magnetic resonance imaging in diagnosis of Creutzfeldt-Jakob disease, Arch Neurol 2000;57:1751-1757.

20. Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RS, et al. Analysis of EEG and proteins as aids to the diagnosis of Creutzfeldt-Jakob disease, Neurology 2000;55:811-815.

21. Louie JK, Gavali SS, Belay ED, Trevejo R, Hammond LH, Schonberger LB, et al. Barriers to Creutzfeldt- Jakob disease autopsies, California. Emerg Infect Dis. 2004 Sep; 10(9): 1677-80.

22. Ironside JW, Head M, Neuropathology and molecular biology of variant Creutzfeldt-Jakob disease, Curr Top Microbiol Immunol 2004;284:133-59.

23. Kovács GG, Majtényi K, László L, Prion protein immunohistochemistry in Creutzfeldt-Jakob disease, Pathol Oncol Res 1997 Sep 3(3):193-7.

24. Tschampa JH, Herms J, Schultz-Schaeffer WJ, Maruschak B, Windl O, Jastrow U, et al., Clinical findings in sporadic Creutzfeldt-Jakob disease correlate with thalamic pathology, Brain 2002;125(11):2558-66.

25. Johnson CJ, Pedersen JA, Chappell RJ, McKenzie D, Aiken JM, Oral Transmissibility of Prion Disease Is Enhanced by Binding to Soil Particles, PLoS Pathog, 2007;3(7): e93. doi:10.1371/journal.ppat.0030093.

Revista Romana de Medicina de Laborator

Romanian Journal of Laboratory Medicine

Journal Information


IMPACT FACTOR 2018: 0,800
5-year IMPACT FACTOR: 0,655



CiteScore 2017: 0.31

SCImago Journal Rank (SJR) 2018: 0.194
Source Normalized Impact per Paper (SNIP) 2018: 0.306

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 334 235 27
PDF Downloads 106 85 10