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The Lancet. Neurology Mar 2021Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP). Effective therapeutics are currently not available and... (Review)
Review
Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, could aid the diagnostic process. However, discordant studies have led to controversies about the clinical value of some established surrogate biomarkers. Development and clinical application of disease-specific protein aggregation and amplification assays, such as real-time quaking induced conversion (RT-QuIC), have constituted major breakthroughs for the confident pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease. Updated criteria for the diagnosis of sporadic Creutzfeldt-Jakob disease, including application of RT-QuIC, should improve early clinical confirmation, surveillance, assessment of PrP seeding activity in different tissues, and trial monitoring. Moreover, emerging blood-based, prognostic, and potentially pre-symptomatic biomarker candidates are under investigation.
Topics: Biomarkers; Creutzfeldt-Jakob Syndrome; Genetic Markers; Guidelines as Topic; Humans; Neuroimaging; Sensitivity and Specificity
PubMed: 33609480
DOI: 10.1016/S1474-4422(20)30477-4 -
The Lancet. Infectious Diseases Jan 2020Creutzfeldt-Jakob disease (CJD) is a fatal disease presenting with rapidly progressive dementia, and most patients die within a year of clinical onset. CJD poses a...
Creutzfeldt-Jakob disease (CJD) is a fatal disease presenting with rapidly progressive dementia, and most patients die within a year of clinical onset. CJD poses a potential risk of iatrogenic transmission, as it can incubate asymptomatically in humans for decades before becoming clinically apparent. In this Review, we sought evidence to understand the current iatrogenic risk of CJD to public health by examining global evidence on all forms of CJD, including clinical incidence and prevalence of subclinical disease. We found that although CJD, particularly iatrogenic CJD, is rare, the incidence of sporadic CJD is increasing. Incubation periods as long as 40 years have been observed, and all genotypes have now been shown to be susceptible to CJD. Clinicians and surveillance programmes should maintain awareness of CJD to mitigate future incidences of its transmission. Awareness is particularly relevant for sporadic CJD, which occurs in older people in whom clinical presentation could resemble rapidly developing dementia.
Topics: Adult; Aged; Aged, 80 and over; Creutzfeldt-Jakob Syndrome; Female; Humans; Iatrogenic Disease; Incidence; Infectious Disease Incubation Period; Male; Middle Aged; Prevalence; Risk Assessment; Young Adult
PubMed: 31876504
DOI: 10.1016/S1473-3099(19)30615-2 -
The New England Journal of Medicine Jan 2018
Topics: 14-3-3 Proteins; Brain; Cognition Disorders; Creutzfeldt-Jakob Syndrome; Electroencephalography; Fatal Outcome; Humans; Magnetic Resonance Imaging; Male; Middle Aged; tau Proteins
PubMed: 29365304
DOI: 10.1056/NEJMicm1710121 -
The Journal of the American Osteopathic... Jan 2019
Topics: Aged; Creutzfeldt-Jakob Syndrome; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Neurologic Examination; tau Proteins
PubMed: 30615045
DOI: 10.7556/jaoa.2019.010 -
Clinical & Experimental Optometry Jan 2006This review describes a group of diseases known as the transmissible spongiform encephalopathies (TSEs), which affect animals and humans. Examination of affected brain... (Review)
Review
This review describes a group of diseases known as the transmissible spongiform encephalopathies (TSEs), which affect animals and humans. Examination of affected brain tissue suggests that these diseases are caused by the acquisition and deposition of prion protein (PrP). Creutzfeldt-Jakob disease (CJD) is the most important form of TSE in humans with at least four different varieties of the disease. Variant CJD (vCJD), a new form of the disease found in the UK, has several features that differ from the classical forms including early age of onset, longer duration of disease, psychiatric presentation (for example, depression) and extensive florid plaque development in the brain. About 10 per cent of patients with CJD exhibit visual symptoms at disease presentation and approximately 50 per cent during the course of the disease. The most commonly reported visual symptoms include diplopia, supranuclear palsies, complex visual disturbances, homonymous visual field defects, hallucinations and cortical blindness. Saccadic and smooth pursuit movements appear to be more rarely affected. The agent causing vCJD accumulates in lymphoid tissue such as the spleen and tonsils. The cornea has lymphoid tissue in the form of corneal dendritic cells that are important in the regulation of the immune response in the anterior segment of the eye. The presence of these cells in the cornea has raised the possibility of transmission between patients via optical devices that contact the eye. Although such transmission is theoretically possible it remains highly improbable.
Topics: Animals; Creutzfeldt-Jakob Syndrome; Humans; Risk Factors; Vision Disorders; Visual Perception
PubMed: 16430434
DOI: 10.1111/j.1444-0938.2006.00001.x -
Ideggyogyaszati Szemle May 2020We aimed to analyze the clinical, laboratory and neuroimaging findings in patients with sporadic Creutzfeldt-Jakob disease (CJD) in a single center as well as to review... (Review)
Review
BACKGROUND AND PURPOSE
We aimed to analyze the clinical, laboratory and neuroimaging findings in patients with sporadic Creutzfeldt-Jakob disease (CJD) in a single center as well as to review other published cases in Turkey.
METHODS
Between January 1st, 2014 and June 31st, 2017, all CJD cases were evaluated based on clinical findings, differential diagnosis, the previous misdiagnosis, electroencephalography (EEG), cerebrospinal fluid and cranial magnetic resonance imaging (MRI) findings in our center. All published cases in Turkey between 2005-2018 were also reviewed.
RESULTS
In a total of 13 patients, progressive cognitive decline was the most common presenting symptom. Two patients had a diagnosis of Heidenhain variant, 1 patient had a diagnosis of Oppenheimer-Brownell variant. Seven patients (53.3%) had been misdiagnosed with depression, vascular dementia, normal pressure hydrocephalus or encephalitis. Eleven patients (87%) had typical MRI findings but only 5 of these were present at baseline. Asymmetrical high signal abnormalities on MRI were observed in 4 patients. Five patients (45.4%) had periodic spike wave complexes on EEG, all appeared during the follow-up. There were 74 published cases in Turkey bet-ween 2005 and 2018, with various clinical presentations.
CONCLUSION
CJD has a variety of clinical features in our patient series as well as in cases reported in Turkey. Although progressive cognitive decline is the most common presenting symptom, unusual manifestations in early stages of the disease might cause misdiagnosis. Variant forms should be kept in mind in patients with isolated visual or cerebellar symptoms. MRI and EEG should be repeated during follow-up period if the clinical suspicion still exists.
Topics: Brain; Cerebrospinal Fluid; Cognitive Dysfunction; Creutzfeldt-Jakob Syndrome; Diagnosis, Differential; Electroencephalography; Humans; Magnetic Resonance Imaging; Turkey
PubMed: 32579307
DOI: 10.18071/isz.73.0177 -
British Medical Journal (Clinical... Jun 1982
Topics: Creutzfeldt-Jakob Syndrome; Cross Infection; Humans
PubMed: 6805645
DOI: 10.1136/bmj.284.6330.1658-a -
Journal de Gynecologie, Obstetrique Et... 1997Recent public health concern about the Jacob-Creutzfeld disease related to administration of growth hormone in children or the "mad cow" disease in cattle fed... (Review)
Review
Recent public health concern about the Jacob-Creutzfeld disease related to administration of growth hormone in children or the "mad cow" disease in cattle fed contaminated products requires a review of the association between Jacob-Creutzfeldt disease and pregnancy. Four cases of this transmissible spongiform encephalopathy have been described in pregnant women and none of the offspring, currently 22, 10, 7 and 3 years of age, have developed the disease. Vertical transmission of Jacob-Creutzfeldt disease cannot however be excluded as it occurs in animals and since injections of cord blood and placenta extracts of women with this disease into mice brains has proven the presence of the infectious agent. The rarity of Jacob-Creutzfeldt disease in women of reproductive age and the particularly long incubation period of this type of encephalopathy would incite prudence and long-term follow-up to determine outcome in children born from disease women or who developed signs of the disease during the years following delivery.
Topics: Animals; Cattle; Creutzfeldt-Jakob Syndrome; Disease Models, Animal; Female; Follow-Up Studies; Humans; Infectious Disease Transmission, Vertical; Mice; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome
PubMed: 9509315
DOI: No ID Found -
BMJ (Clinical Research Ed.) Oct 1996
Topics: Creutzfeldt-Jakob Syndrome; Diagnostic Services; Humans
PubMed: 8870559
DOI: 10.1136/bmj.313.7061.833 -
Emerging Infectious Diseases Sep 2022We found increasing trends of Creutzfeldt-Jakob disease (CJD) cases and annual incidence in South Korea during 2001-2019. We noted relatively low (5.7%) distribution of...
We found increasing trends of Creutzfeldt-Jakob disease (CJD) cases and annual incidence in South Korea during 2001-2019. We noted relatively low (5.7%) distribution of familial CJD. An unusually high percentage (≈1%) of patients were in the 30-39 age group, which should prompt a preemptive CJD control system.
Topics: Creutzfeldt-Jakob Syndrome; Humans; Incidence; Prions; Republic of Korea
PubMed: 35997603
DOI: 10.3201/eid2809.212050