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Creutzfeldt-Jakob Disease (and Other Prion Diseases)
Published in Alexander R. Toftness, Incredible Consequences of Brain Injury, 2023
(STORY 3) Two patients developed iatrogenic Creutzfeldt-Jakob disease in 1976 because their physician reused silver brain electrodes that had been previously used during a brain operation on a person with Creutzfeldt-Jakob disease (CJD). Months had elapsed between the prior use of the electrodes in the CJD patient, and the electrodes had been sterilized in alcohol and formaldehyde, but this was not enough to kill the infectious prions. One of the newly infected patients was a woman who had become pregnant by the time her CJD appeared around a year after the electrode-related surgery. The surgery had helped her epilepsy, but the trade-off was rapidly worsening neurological problems including fading memory, trouble speaking, and trouble walking. The resulting brain damage from the CJD caused her to become comatose after her child was born via C-section (Bernoulli et al., 1977, case 1; Bernoulli, 1977; Rhodes, 1998, p. 138). Other iatrogenic cases of CJD stemmed from corneal transplantation (the outer layer of the eyeball) and from the injection of human growth hormone harvested from human cadavers (Rhodes, 1998, pp. 131–133 and 144–150). Since then, many more precautions have been put in place in order to avoid transmitting CJD between people.
Dementia
Published in Henry J. Woodford, Essential Geriatrics, 2022
CJD is caused by a prion. In such disorders, a cellular prion protein (PrPC) becomes pathogenic by misfolding into a harmful form (PrPSC).39 This is then capable of inducing changes in other prion proteins with a resultant cascade and accumulation of protein aggregates (seeFigure 6.8).53 Pathological changes include spongiform degeneration and astrogliosis.39 It is most commonly sporadic in nature (85%) but familial (10–15%) and infectious forms (< 5%) also exist.54 The infectious forms include a new variant (nvCJD) caused by the ingestion of infected animal products. The sporadic form has a mean age of onset of 62 years and runs a short course (mean survival five months).54,55 Overall it has an incidence of around one per million per year but this figure rises to around five per million in those over the age of 60.39 Key clinical features are listed below:A rapidly progressive subcortical dementiaMyoclonusAtaxiaPyramidal or extrapyramidal signs
Neuroinfectious Diseases
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Jeremy D. Young, Jesica A. Herrick, Scott Borgetti
Creutzfeldt–Jakob disease (CJD) is a neurodegenerative condition that is the most common subtype of transmissible spongiform encephalopathy (TSE), or prion disease. TSE is characterized by the deposition of an abnormal, protease-resistant isoform of a membrane-bound glycoprotein, the prion protein (PrP), in the brain.
The epidemiological and clinical characteristics of patients with young-onset genetic Creutzfeldt-Jakob disease
Published in Neurological Research, 2023
Daniel Safadi, Oren S Cohen, Joab Chapman, Hanna Rosenmann, Zeev Nitsan, Esther Kahan, Shmuel Appel, Marwan Alkrenawi
Seven hundred and thirty-one CJD patients were included in the study cohort. Eighteen patients (2.4%) were younger than 40 and were included in the young-onset disease group. (Y) 78% of the patient in group (Y) had a genetic disease – gCJD (Libyan Jews- 12 patients, Tunisian Jew- 1 patient, Egyptian Jews- 1 patient), and 4 patients had the sporadic disease – sCJD. The rest 713 patients (97.6%) were older than 40 years at the onset of the disease (range 41–87 years old, mean 62.78 ± 7.6) and were included in the older onset disease group. (O) For demographic and clinical characters see Table 1. The most common clinical presentation in the young-onset group was gait instability (O = 6%, Y = 27%) (chi-square test, p = 0.036(, whereas rapidly progressive dementia was the most common presenting symptom in the elderly-onset group. (O = 58%, Y = 27%) (chi-square test, p = 0.019. (The prevalence of initial psychiatric presentation did not differ between groups. The rest of the demographic and clinical features were similar in both groups (gender, disease sub-type) including mean disease duration. (Y = 9.24 ± 6.12 months vs. O = 9.7 ± 12.74 months) (p = 0.88, ANOVA) Most of the work-up studies (tau protein level in the CSF, EEG) were similar on both groups as well, except of the MRI results that showed typical CJD findings in 36% of patients with young-onset of the disease vs. 76.9% of the patients with older-onset of the disease. (p = 0.006, chi-square test)
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.
Atypical and early symptoms of sporadic Creutzfeldt – Jakob disease: case series and review of the literature
Published in International Journal of Neuroscience, 2021
Grammatiki Katsikaki, Ioannis E. Dagklis, Petros Angelopoulos, Dimitrios Ntantos, Angeliki Prevezianou, Sevasti Bostantjopoulou
Sporadic CJD presenting with symptoms and signs of brainstem involvement is uncommon [132]. Although mild histopathological and immunohistochemical alterations can be found in the brainstem of patients with sCJD, spongiform changes were found only infrequently and abnormal PrPSc depositions are not necessarily associated with clinical symptoms or neuronal loss [133,134]. Isolated dysarthria, dysphagia, vocal cord and soft palate paralysis, lethargy, respiratory failure and central apnea as initial manifestations have been described [135–138]. Moreover, an unique case with hyperekplexia [139] and with vulvodynia [140] have been reported recently. The location of the lesion is not easily identifiable and the distinction of the damage, either as bulbar or as pseudobulbar [141] is based on the findings from the MRI and neurophysiological evaluation.