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Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
Creutzfeldt-Jakob disease is a prion disease that causes a rapidly progressive (weeks to months) dementia and early death. It can be acquired through ingestion of beef from cattle affected by mad cow disease. Prion diseases are caused by the conversion of a normal cellular protein termed prion protein to a beta-pleated form. The beta-pleated form resists degradation by proteases and its accumulation results in a spongiform encephalopathy. Multiple cysts with an absence of inflammatory cells on biopsy are characteristic.5,6
Techniques
Published in Helen Whitwell, Christopher Milroy, Daniel du Plessis, Forensic Neuropathology, 2021
This can be done either with an electric or hand saw. The latter method is indicated in suspected cases of Creutzfeldt-Jakob disease. It also tends (in experienced hands) to produce less in the way of damage to the underlying dura/brain. Care should be taken to avoid artefactual skull fracturing. Skull fractures are covered in Chapter 7.
The nervous system and the eye
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
James A.R. Nicoll, William Stewart, Fiona Roberts
Creutzfeldt–Jakob disease is due to an unconventional transmissible agent that is very resistant to normal disinfecting procedures such as standard autoclaving. It appears to have no nucleic acid but to be composed only of protein, hence the term prion. The disease process is characterized by the conversion of a normal cellular protein (PrPc) into an abnormal isoform (PrPsc) by a change in conformation. The PrPsc that accumulates in affected tissue is derived from the host PrP gene and can be detected by immunohistochemistry. The relationship between transmissibility and genetic factors is not yet entirely clear. However, there are thought to be three ways in which PrPsc can form: first, by a point mutation in the PrP gene rendering the protein more likely to misfold to form PrPsc and initiate the disease – this occurs in the familial form of CJD. Second, the presence of PrPsc induces the conversion of PrPc into more PrPsc – this occurs when the disorder is transmitted. Third, sporadic CJD occurs, presumably, when PrPsc is formed from PrPc as a chance event in the aged brain. Homozygosity at codon 129, which codes for either methionine or valine, of the host PrP gene appears to represent a genetic susceptibility factor.
Proceedings of the 44th Annual Upper Midwest Neuro-Ophthalmology Group Meeting
Published in Neuro-Ophthalmology, 2023
Negar Moheb, Adam Baim, Collin McClelland, John. J. Chen
Khawla Abusamra, MBBS, University of Kentucky, presented a case of a 75-year-old woman, who was evaluated for progressive bilateral vision loss, intermittent binocular horizontal diplopia, and encephalopathy. Her visual symptoms continued despite bilateral cataract surgery. She underwent an unrevealing full stroke work up. Over the next 8 weeks she developed prosopagnosia, visual agnosia, unsteady gait, numbness, generalised weakness, dysphagia, visual hallucinations, abnormal body postures, myoclonic jerks and she eventually became mute. Serological and CSF studies were notable for an elevated CSF protein, but otherwise she had a negative infectious and autoimmune work up. Repeat brain MRI revealed diffuse T2 hyperintensities and restricted diffusion with cortical ribboning throughout the cerebral cortex and parts of the deep grey nuclei, which were evident on the initial MRI in retrospect. She was diagnosed with Creutzfeldt-Jakob disease (CJD) and passed away within 2 weeks of diagnosis. Real-time quaking-induced conversion testing was indeterminate and was felt to be the result of a traumatic lumbar puncture. This case showed the typical clinical features and MRI findings of the Heidenhain variant of CJD with visual cortical and parietal predominant cortical ribboning pattern. CJD should be in the differential diagnosis for patients with rapidly progressive vision loss, cognitive decline, and other cortical signs.
Tackling prion diseases: a review of the patent landscape
Published in Expert Opinion on Therapeutic Patents, 2021
Marco Zattoni, Giuseppe Legname
Human prion diseases are etiologically divided into idiopathic, genetic, and acquired. Among the idiopathic forms, which accounts for the majority of prion diseases cases, there are sporadic Creutzfeldt-Jakob disease (sCJD) and variably protease-sensitive prionopathy. Genetic prion diseases, such as, fatal familial insomnia, genetic CJD and Gerstmann-Sträussler-Scheinker syndrome are characterized by autosomal dominant mutations in human PRNP gene. The acquired forms are very rare and account for ritual cannibalism, as Kuru, contamination through surgical instruments, as in the case of iatrogenic CJD, or consumption of animal products contaminated with the agent responsible for the bovine spongiform encephalopathies (BSE) [7]. The BSE epidemic, often referred to as ‘mad cow disease,’ has attracted the attention of the public health authorities and the scientific community since it was shown to cause a new variant form of Creutzfeldt-Jakob disease (vCJD) in humans [8,9]. Besides BSE, other prion diseases discovered in animals include scrapie in sheep and goats and chronic wasting diseases (CWD) in cervids, for which no transmission to humans has been shown so far, although their potential risk cannot be dismissed [10,11]
Infection Prevention: 2020 Review and Update for Neurodiagnostic Technologists
Published in The Neurodiagnostic Journal, 2020
Anna M. Bonner, Petra Davidson
One rare disorder frequently requiring successive EEG studies is Creutzfeldt-Jakob Disease. Creutzfeldt-Jakob Disease (CJD) is neither bacterial nor viral; it is a rare, but transmissible spongiform encephalopathy that is prion-based (prion: derived from “protein” and “infectious”) and known to be fatal. CJD affects approximately one person per million annually worldwide, 350 cases of which occur in the US (NIH 2019). There are three modes by which CJD is transmitted: Sporadic CJD is the most common form, accounting for more than 80% of cases, and as the name implies, this form of CJD appears without known cause or risk factors for the disease.Hereditary CJD accounts for approximately 10–15% of cases in the US and transmission is genetically based.Acquired CJD accounts for fewer than 1% of all cases (approximately 250 patients worldwide) and occurs when the disease is transmitted by exposure to the brain or nervous system tissue, such as during a medical procedure or surgery (NIH 2019; CDC 2019a).