Creutzfeldt-Jakob Disease: Annotated Bibliography

Beginning: 1920’s-30’s

  • Creutzfeldt, Hans Gerhard. “Über eine eigenartige herdförmige erkrankung des zentralnervensystems (Vorläufige mitteilung).” Zeitschrift für die gesamte Neurologie und Psychiatrie 57, no. 1 (December 1, 1920): 1–18. https://doi.org/10.1007/BF02866081.
  • “It’s Jakob’s Disease, Not Creutzfeldt’s | Nature.” Accessed March 10, 2019. https://www.nature.com/articles/29862
  • The German article was written by Hans Gerhard Creutzfeldt detailing the neurological degeneration of a patient. Alfons Maria Jakob also detailed what was thought to be a similar disease, but by modern standards, Jakob’s initial findings are not considered to be CJD. However, since at the time both men were thought to have discovered the same disease, they share the name.

30’s-40’s

  • None existence

40’s-50’s

  • Stengel, E. “Jakob-Creutzfeldt Disease.” Journal of Mental Science 92, no. 387 (April 1946): 370–78. https://doi.org/10.1192/bjp.92.387.370.
  • The article attempt to describe and detail the pathology of CJD by examining two different patients as symptoms progress, potential causes were also viewed. The patients suffered from movement problems followed by neurologic degradation and finally death. While symptoms were detailed, an exact cause was not determined, but some symptoms point to a deficiency problem.

50’s-60’s

  • Schwarz, Gabriel A. “Polioencephalomyelopathy Reminiscent of Creutzfeldt-Jakob’s Syndrome A Clinico-Pathologic Report of a Case.” Journal of Neuropathology & Experimental Neurology 17, no. 2 (195804): 352–66. https://doi.org/10.1097/00005072-195804000-00019.
  • The study presented was the case of a man who presented with neurological symptoms which were later determined to be CJD, the symptoms were recorded to expand the literature. The symptoms included cerebellum wasting, muscle rigidity, and wasting of the muscles of the limbs and body. The hope was that the addition of the new symptoms would allow future researchers to identify the disease while the patient was still alive.

60’s-70’s

  • “Jakob-Creutzfeldt Syndrome: An Infectious Disease?” British Medical Journal 1, no. 5643 (March 1, 1969): 528–29. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1982265/
  • The authors of this paper were charged with the goal of identifying the way Creutzfeldt-Jakobs disease is transmitted. A comparison was made between other neurodegenerative diseases such as Parkinson’s, MS, and Kuru. The finding was that CJD was transmittable via inoculation with infected brain material, in chimps, which was similar to Kuru transmission; however, the vector of transmission was not yet identified.
  • Friede, Reinhard L., and Russell N. DeJONG. “Neuronal Enzymatic Failure in Creutzfeldt-Jakob Disease: A Familial Study.” Archives of Neurology 10, no. 2 (February 1, 1964): 181–95. https://doi.org/10.1001/archneur.1964.00460140067009.
  • The article above details the case of the three reported incidents of family members contracting CJD within a close time period. Symptoms as well as the spongiosus of the brain, and loss of neurons, glial cells and grey mater degradation confirmed CJD in all patients. However, oxidative enzymatic activity loss was confirmed and shown to occur in the neurons combined with the familial connection lead to the theory CJD results from “pathological failure of oxidative enzymatic supply to neurons.”

70’s-80’s

  • Goto, K., H. Umezaki, and M. Suetsugu. “Electroencephalographic and Clinicopathological Studies on Creutzfeldt-Jakob Syndrome.” Journal of Neurology, Neurosurgery, and Psychiatry 39, no. 10 (October 1976): 931–40. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC492495/
  • The study presented details the use of EEG on the brains of four patients who were determined to have CJD post mortem. Overall, CJD showed bilateral synchronous consisting of high voltage spikes or sharp and slow wave complexes which is persistent until before death. The CJD sub-type subacute spongiform encephalopathy is regarded as having all cases present with characterized periodic synchronous discharges.
  • Matthews, W. B. “Creutzfeldt–Jakob Disease.” Postgraduate Medical Journal 54, no. 635 (September 1978): 591–94. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425231/
  • Researchers attempt to determine a possible link between several different neurological degenerative diseases: CJD, Kuru, Parkinson’s, etc. While symptoms of the various diseases share some overlap, the modes of transmission remain different for most. Also, the potential vectors of transmission are unlikely to cause different diseases in different hosts.
  • Sanders, W. L. “Short Report.” Journal of Neurology, Neurosurgery, and Psychiatry 42, no. 10 (October 1979): 960–61. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC490372/
  • The articles detail the case and treatment of a man who presented with severe neurological degeneration. However, upon administration of amantadine the patient recovered and showed stability for five years. Although the patient did die, cause determined to be accidental, and was diagnosised post mortum, his data was added to a list of two other cases where CJD patient recovered using amantadine.

80’s-90’s

  • Austin, James H. “Precautions in Creutzfeldt-Jakob Disease.” Annals of Neurology 20, no. 6 (1986): 748–748. https://doi.org/10.1002/ana.410200620.
  • A committee in regards to transmission of CJD ruled for the extensive cleaning of ophthalmological equipment, and that family members of CJD patients be deferred from organ and blood donation.
  • Hadlow, William J., Stanley B. Prusiner, Richard C. Kennedy, and Richard E. Race. “Brain Tissue from Persons Dying of Creutzfeldt-Jakob Disease Causes Scrapie-like Encephalopathy in Goats.” Annals of Neurology 8, no. 6 (1980): 628–31. https://doi.org/10.1002/ana.410080615.
  • Findings determined that goats injected with material harvested from human patients of CJD developed scrapie. Theory derived was that the “virus” that caused CJD was the same that caused scrapie, but several roadblocks popped up. In the laboratory, a goat will not get scrapie from chimps injected with CJD from human material, and the material of other animals.
  • Kitamoto, Tetsuyuki, Shirou Mohri, and Jun Tateishi. “Organ Distribution of Proteinase-Resistant Prion Protein in Humans and Mice with Creutzfeldt-Jakob Disease.” Journal of General Virology 70, no. 12 (1989): 3371–79. https://doi.org/10.1099/0022-1317-70-12-3371.
  • Using mice models of CJD, the authors attempted to determine the concentration of prions distributed throughout other organs. In mice, prions were found in the central nervous system, spleen, lymph nodes, thymus, and intestines with varying concentrations. Mice had high prion concentration compared to humans, and were shown to be less infectious in organs outside the central nervous system; however, this was attributed to cross-species testing.

’90s-’00s

  • Collinge, John. “Variant Creutzfeldt-Jakob Disease.” The Lancet 354, no. 9175 (July 24, 1999): 317–23. https://doi.org/10.1016/S0140-6736(99)05128-4.
  • Variant CJD was isolated in the UK in 1996 after a widespread epidemic linked to the prion disease mad cow disease. The article details how the disease could be transmitted between different species and between the individuals of the same species via the previously tested methods, and via ingestion of a contaminated product of an infected animal.
  • Collinge, J, M Poulter, M B Davis, M Baraitser, F Owen, T J Crow, and A E Harding. “Presymptomatic Detection or Exclusion of Prion Protein Gene Defects in Families with Inherited Prion Diseases.” American Journal of Human Genetics 49, no. 6 (December 1991): 1351–54. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686464/
  • The article focus on familial (genetic) CJD and how pre-screening may improve genetic counseling for patients families and more accurate diagnosis for patients. Mutations in the PrP gene, 144 bp insert, and a codon 102 point mutation were examined in three subjects ranging in age from 30-49 who had a parent diagnosed with CJD. While the 102 mutations were not seen in anybody, subject three did have a 144 bp insertion confirmed via PCR and western blot, but the subject had yet to present any neurological deficits.

00’s-10’s

  • Campbell, Simon, Matthew Warner, Margaret Esiri, Sandro Lanzon-Miller, and Richard Butterworth. “CJD—a Case of Mistaken Identity.” The Lancet 364, no. 9450 (December 4, 2004): 2068. https://doi.org/10.1016/S0140-6736(04)17520-X.
  • The article serves to issue a warning that CJD diagnosis is difficult and not as accurate as science would hope, even with the use of CSF 14-3-3 protein analysis, which simply confirms neuronal death at an increased rate.
  • Pfeifer, Alexander, Sabina Eigenbrod, Saba Al-Khadra, Andreas Hofmann, Gerda Mitteregger, Markus Moser, Uwe Bertsch, and Hans Kretzschmar. “Lentivector-Mediated RNAi Efficiently Suppresses Prion Protein and Prolongs Survival of Scrapie-Infected Mice.” The Journal of Clinical Investigation 116, no. 12 (December 1, 2006): 3204–10. https://doi.org/10.1172/JCI29236.
  • The article presented here does not deal with CJD specifically; however, it does provide a potential novel treatment option. By injecting highly chimeric mice, infected with scrapie, with Lentivectors, which naturally silence expression of prion proteins when functioning normally, prion proteins accumulation was shown to be reduced. Lentivectors are found to control the production of all prion proteins so the future of this treatment does exist for human CJD.
  • “Cells Infected with Scrapie and Creutzfeldt–Jakob Disease Agents Produce Intracellular 25-Nm Virus-like Particles | PNAS.” Accessed March 10, 2019. https://www.pnas.org/content/104/6/1965.
  • The article details the discovery and isolation of floating particles found in a cell infected with various prion disease. In the sheep disease scrapie and human CJD, the particle could not be isolated using immunoassay and was proven to not have any relationship with existing viruses. However, it has been theorized that the particles are partially responsible for the late-stage development of the diseases.

10’s-19

  • Karapetyan, Yervand Eduard, Gian Franco Sferrazza, Minghai Zhou, Gregory Ottenberg, Timothy Spicer, Peter Chase, Mohammad Fallahi, Peter Hodder, Charles Weissmann, and Corinne Ida Lasmézas. “Unique Drug Screening Approach for Prion Diseases Identifies Tacrolimus and Astemizole as Antiprion Agents.” Proceedings of the National Academy of Sciences 110, no. 17 (April 23, 2013): 7044–49. https://doi.org/10.1073/pnas.1303510110.
  • The authors here attempted to validate the new PrP-FRET-enabled high throughput assay method that they developed to search for drugs that inhibit prion production by the cell. Out of a collection of drugs already approved for human use, the authors found Tacrolimus, inhibition of prion production by non-transcriptional means, and Astemizole stimulated autophagy in infected cells. In mice models, Astemizole was found to prolong the life span of individuals infected with CJD, and with no other drugs available for CJD treatment it is possible a new treatment could have been discovered.
  • “Accumulation of Prion Protein in the Vagus Nerve in Creutzfeldt‐Jakob Disease – Kresl – – Annals of Neurology – Wiley Online Library.” Accessed March 10, 2019. https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.2545.
  • The author tested to see the clinical difference between different codon 129 variants of the prion gene looking at the immunomorphology. One of the findings was that within the vagus nerve the VV-2 sporadic CJD subtype produced coarse aggregates and genetic CJD produced granular dots along the nerve.
  • Orrù, Christina D., Katrin Soldau, Christian Cordano, Jorge Llibre-Guerra, Ari J. Green, Henry Sanchez, Bradley R. Groveman, et al. “Prion Seeds Distribute throughout the Eyes of Sporadic Creutzfeldt-Jakob Disease Patients.” MBio 9, no. 6 (December 21, 2018): e02095-18. https://doi.org/10.1128/mBio.02095-18.
  • Due to vision problems associated with CJD, the authors sought to see if prions could be detected within the eye post mortem. Using real-time quaking-induced the authors showed that the eye contained varying levels of prions; highest concentrations being the retina and decreasing as the distance from the brain increased. The finding here provided a new testing method and a new biohazard for CJD bodies.
  • Orrú, Christina D., Matilde Bongianni, Giovanni Tonoli, Sergio Ferrari, Andrew G. Hughson, Bradley R. Groveman, Michele Fiorini, et al. “A Test for Creutzfeldt–Jakob Disease Using Nasal Brushings.” Research-article. http://dx.doi.org/10.1056/NEJMoa1315200, August 6, 2014. https://doi.org/10.1056/NEJMoa1315200.
  • The article and authors partially developed a new method for detecting CJD within living patients. Using real-time quaking-induced conversion (RT-QuIC) on epithelium brushing from the olfactory system. Olfactory brushing showed a higher degree of confidence that the previous method which had been testing on cerebrospinal fluid.
  • Rubenstein, Richard, Binggong Chang, Perry Gray, Martin Piltch, Marie S. Bulgin, Sharon Sorensen-Melson, and Michael W. Miller. “A Novel Method for Preclinical Detection of PrPSc in Blood.” Journal of General Virology 91, no. 7 (2010): 1883–92. https://doi.org/10.1099/vir.0.020164-0.
  • The authors and article detail a combination of PMCA, protein misfolding cyclic amplification, and SOFIA, surround optical fibre immunoassay to detect prions with greater accuracy. The study focused on how the increases amplification of prions using PMCA was stabilized by using SOFIA to gather samples. The study tested the method on the animal prions for sheep scrapie and chronic wasting disease in white-tailed deer and showed pre-symptomatic confirmation.

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