scholarly journals Inflammatory Cerebrospinal Fluid in Sporadic Creutzfeldt-Jakob Disease

2008 ◽  
Vol 35 (5) ◽  
pp. 625-629
Author(s):  
Esther Bui ◽  
Eric Ehrensperger ◽  
Demetrios J. Sahlas ◽  
Brian J. Murray ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Immune Response ◽  
Cerebrospinal Fluid ◽  
Transmissible Spongiform Encephalopathy ◽  
Underlying Mechanism ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Jakob Disease ◽  
Csf Pleocytosis ◽  
Inflammatory Profile ◽  
Sporadic Cjd

Background:Sporadic Creutzfeldt-Jakob disease (CJD) is a fatal, transmissible spongiform encephalopathy characterized by rapidly progressive dementia, myoclonus, ataxia and akinetic mutism. The underlying mechanism is believed to be a conformational change of a native prion protein which characteristically fails to provoke an immune response. Commensurate with the latter, cerebrospinal fluid (CSF) classically exhibits a non-inflammatory profile.Cases:We report two patients with pathologically-proven sporadic CJD presenting with a significant CSF pleocytosis.Conclusion:Although uncommon, the presence of an inflammatory CSF profile should not exclude the diagnosis of sporadic CJD.

Use of 14-3-3 in the diagnosis of Creutzfeldt-Jakob disease

2002 ◽  
Vol 30 (4) ◽  
pp. 382-386 ◽  
Author(s):  
A. J. E. Green
Keyword(s):  
Cerebrospinal Fluid ◽  
Bovine Spongiform Encephalopathy ◽  
Diagnostic Tests ◽  
Human Diseases ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Spongiform Encephalopathies ◽  
Animal Diseases ◽  
Jakob Disease ◽  
Sporadic Cjd

The transmissible spongiform encephalopathies include human diseases such as Creutzfeldt-Jakob disease (CJD) and kuru as well as animal diseases such as scrapie and bovine spongiform encephalopathy (BSE). The emergence of variant CJD, which is causally related to BSE, has generated much interest in the development of rapid and sensitive diagnostic tests for the pre-mortem diagnosis of CJD. In 1986 two proteins were detected in the cerebrospinal fluid (CSF) of patients with sporadic CJD. These proteins were later demonstrated to be members of the 14-3-3 family, and tests for the detection of CSF 14-3-3 were developed. A number of studies have shown that the detection of CSF 14-3-3 is an accurate test for sporadic CJD, although the results with variant CJD are less promising.

scholarly journals Positron emission tomography imaging in a case of E200K mutation-related spongiform encephalopathy with non-diagnostic magnetic resonance imaging and cerebrospinal fluid testing

2017 ◽  
Vol 5 ◽  
pp. 2050313X1770034
Author(s):  
Pravin George ◽  
Christopher R Newey ◽  
Karin P Mente ◽  
Erik P Pioro
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Spongiform Encephalopathy ◽  
Resonance Imaging ◽  
Progressive Dementia ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Positron Emission ◽  
Jakob Disease

Objective: Creutzfeldt–Jakob disease is a rapidly progressive spongiform encephalopathy. The E200K mutation is found in a majority of genetically transmitted Creutzfeldt–Jakob disease cases. Methods: We describe the case and associated neuroimaging of an E200K-129M gene-mutation-related fatal spongiform encephalopathy with resultant clinical insomnia and thalamic changes. Results: A 46-year-old Caucasian male presented with, who was well until 2 months prior to admission, a rapidly progressive dementia followed by a change in personality with auditory and visual hallucinations. His wife noted progressively worsening jerking and other limb movements and that he kept his eyes open overnight and was “awake” at all hours. Magnetic resonance imaging, electroencephalogram and initial cerebrospinal fluid analysis were essentially non-diagnostic. Positron emission topography revealed severe bilateral thalamic hypometabolism. Posthumous cerebrospinal fluid analysis revealed abnormal PrP 27-30 protein. Autopsy confirmed prion disease and presence of the E200K-129M mutation. Conclusion: This report highlights that positron emission topography imaging may help diagnose E200K-129M mutation-related spongiform encephalopathy. In cases of non-diagnostic magnetic resonance imaging, electroencephalogram and cerebrospinal fluid studies, early positron emission topography may help in the workup of rapidly progressive dementia.

How to Limit the Spread of Creutzfeldt-Jakob Disease

1996 ◽  
Vol 17 (8) ◽  
pp. 521-528
Author(s):  
Dominique Dormont
Keyword(s):  
Blood Donation ◽  
Transmissible Spongiform Encephalopathy ◽  
Infected Individual ◽  
Experimental Models ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Spongiform Encephalopathies ◽  
Corneal Grafting ◽  
Jakob Disease ◽  
Spleen And Lymph Nodes

AbstractTransmissible spongiform encephalopathies are rare lethal diseases induced in humans and animals by unconventional agents called transmissible spongiform encephalopathy agents (TSEAs), virions, or prions. Several cases of iatrogenic Creutzfeldt-Jakob disease (CJD) have been reported in the literature after neuro-surgery, treatment with pituitary-derived hormones, corneal grafting, and use of dura mater lyophilisates. In a given infected individual, TSEA-associated infectiousness depends on the nature of the organ: the central nervous system has the highest infectiousness, spleen and lymph nodes a medium infectiousness, and organs such as bone, skin, or skeletal muscles do not harbor any detectable infectiousness in experimental models. Transmissible spongiform encephalopathy/prions have unconventional properties; in particular, they resist almost all the chemical and physical processes that inactivate conventional viruses. Therefore, prevention of CJD agent transmission must be taken into account in daily hospital practice. Efficient sterilization procedures should be determined. In tissue and blood donation, donors with a neurologic history must be excluded, and patients treated with pituitary-derived hormones should be considered potentially infected with TSEA and excluded.

scholarly journals Clinical, neuropathological and immunohistochemical features of sporadic and variant forms of Creutzfeldt–Jakob disease in the squirrel monkey (Saimiri sciureus)

2007 ◽  
Vol 88 (2) ◽  
pp. 688-695 ◽  
Author(s):  
Lawrence Williams ◽  
Paul Brown ◽  
James Ironside ◽  
Susan Gibson ◽  
Robert Will ◽  
...  
Keyword(s):  
Squirrel Monkey ◽  
Transmissible Spongiform Encephalopathy ◽  
Clinicopathological Characteristics ◽  
Saimiri Sciureus ◽  
Spongiform Encephalopathy ◽  
Lymphoid Tissues ◽  
Incubation Periods ◽  
Clinical Surveillance ◽  
Jakob Disease ◽  
Different Strains

The squirrel monkey (Saimiri sciureus) has been shown to be nearly as susceptible as the chimpanzee to experimentally induced Creutzfeldt–Jakob disease (CJD), and has been used extensively in diagnostic and pathogenetic studies. However, no information is available concerning the clinicopathological characteristics of different strains of human transmissible spongiform encephalopathy (TSE) in this species, in particular, strains of sporadic and variant CJD (sCJD and vCJD, respectively). Brain homogenates from patients with sCJD or vCJD were inoculated intracerebrally at dilutions of 10−1 or 10−3 into the left frontal cortex of squirrel monkeys. Animals were kept under continuous clinical surveillance during the preclinical and clinical phases of disease, and regularly underwent standardized behavioural testing. Brains from three animals in the sCJD and vCJD groups were examined histopathologically and immunohistochemically for the presence of pathognomonic misfolded protein (PrPTSE). Overall, incubation periods and durations of illness were slightly shorter in monkeys infected with sCJD than in those infected with vCJD, but the earliest signs of illness (ataxia and tremors) were the same in both groups. Clinical disease in the sCJD monkeys was somewhat more severe and of shorter duration. Post-mortem examinations revealed distinctive patterns of spongiform change and PrPTSE distribution in the brains of sCJD and vCJD animals, similar to those seen in humans except that amyloid plaques were not present. PrPTSE was uniformly absent from peripheral lymphoid tissues in both groups of animals. Human strains of sCJD and vCJD cause distinguishable clinicopathological features in the squirrel monkey that can provide a baseline for the evaluation of future therapeutic studies.

scholarly journals Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara

2020 ◽  
Vol 33 (13) ◽  
Author(s):  
Renato Oliveira ◽  
Marta Dias ◽  
Inês Brás Marques
Keyword(s):  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Diffusion Weighted Imaging ◽  
Negative Symptoms ◽  
Sudden Onset ◽  
Lower Limbs ◽  
Progressive Dementia ◽  
Radiological Features ◽  
Diffusion Weighted ◽  
Jakob Disease

Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.

scholarly journals Rapid and Sensitive RT-QuIC Detection of Human Creutzfeldt-Jakob Disease Using Cerebrospinal Fluid

mBio ◽  
2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Christina D. Orrú ◽  
Bradley R. Groveman ◽  
Andrew G. Hughson ◽  
Gianluigi Zanusso ◽  
Michael B. Coulthart ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Protein Misfolding ◽  
Prion Diseases ◽  
Analytical Sensitivity ◽  
Enhanced Sensitivity ◽  
Highly Sensitive ◽  
Jakob Disease ◽  
Misfolding Diseases ◽  
Amyloid Diseases ◽  
Sporadic Cjd

ABSTRACT  Fast, definitive diagnosis of Creutzfeldt-Jakob disease (CJD) is important in assessing patient care options and transmission risks. Real-time quaking-induced conversion (RT-QuIC) assays of cerebrospinal fluid (CSF) and nasal-brushing specimens are valuable in distinguishing CJD from non-CJD conditions but have required 2.5 to 5 days. Here, an improved RT-QuIC assay is described which identified positive CSF samples within 4 to 14 h with better analytical sensitivity. Moreover, analysis of 11 CJD patients demonstrated that while 7 were RT-QuIC positive using the previous conditions, 10 were positive using the new assay. In these and further analyses, a total of 46 of 48 CSF samples from sporadic CJD patients were positive, while all 39 non-CJD patients were negative, giving 95.8% diagnostic sensitivity and 100% specificity. This second-generation RT-QuIC assay markedly improved the speed and sensitivity of detecting prion seeds in CSF specimens from CJD patients. This should enhance prospects for rapid and accurate ante mortem CJD diagnosis. IMPORTANCE A long-standing problem in dealing with various neurodegenerative protein misfolding diseases is early and accurate diagnosis. This issue is particularly important with human prion diseases, such as CJD, because prions are deadly, transmissible, and unusually resistant to decontamination. The recently developed RT-QuIC test allows for highly sensitive and specific detection of CJD in human cerebrospinal fluid and is being broadly implemented as a key diagnostic tool. However, as currently applied, RT-QuIC takes 2.5 to 5 days and misses 11 to 23% of CJD cases. Now, we have markedly improved RT-QuIC analysis of human CSF such that CJD and non-CJD patients can be discriminated in a matter of hours rather than days with enhanced sensitivity. These improvements should allow for much faster, more accurate, and practical testing for CJD. In broader terms, our study provides a prototype for tests for misfolded protein aggregates that cause many important amyloid diseases, such as Alzheimer’s, Parkinson’s, and tauopathies.

scholarly journals Applicability of long-term electroencephalography in pre-mortem diagnosis of Creutzfeldt–Jakob disease: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1774448 ◽  
Author(s):  
Sanaz Attaripour Isfahani ◽  
Michelle Dougherty ◽  
Gediminas Peter Gliebus
Keyword(s):  
Cerebrospinal Fluid ◽  
Symptom Onset ◽  
Epileptiform Activity ◽  
Progressive Dementia ◽  
Clinical Criteria ◽  
Fluid Analysis ◽  
Weighted Magnetic Resonance Imaging ◽  
Jakob Disease ◽  
Rapid Cognitive Decline

Creutzfeldt–Jakob disease accounts for more than 90% of all sporadic prion disease cases. The molecular MM2 genotype has been divided into cortical and thalamic subtypes based on structures involved and is characterized clinically by progressive dementia without ataxia or typical electroencephalography changes. Proposed diagnostic criteria for MM2 cortical type sporadic Creutzfeldt–Jakob disease include progressive dementia, cortical hyper-intensity on diffusion-weighted magnetic resonance imaging, increased cerebrospinal fluid 14-3-3 protein level, and the exclusion of other types of dementia. The presence of periodic discharges on electroencephalography in MM2 cortical type were reported in 42% of the cases. We are reporting a case of sporadic Creutzfeldt–Jakob disease cortical MM2-type presenting with rapid cognitive decline, who survived 8 months since symptom onset. Brain imaging, cerebrospinal fluid analysis, and long-term electroencephalography monitoring were obtained and diagnosis was confirmed by autopsy. Short-term electroencephalography recording, performed 5 months after symptom onset, demonstrated diffuse background slowing without epileptiform activity. Long-term video electroencephalography monitoring demonstrated generalized slowing, maximum in bilateral frontal areas, which intermittently would become rhythmic (1–2 Hz) without hemispheric predominance. If the findings do not clearly meet the proposed clinical criteria for sporadic Creutzfeldt–Jakob disease, the use of long-term electroencephalography could increase the sensitivity. We question whether the lack of the characteristic findings on electroencephalography in some cases could be due to insufficient time of recording. Application of long-term electroencephalography monitoring increases the sensitivity of electroencephalography and the certainty of pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease.

scholarly journals Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

2021 ◽  
Vol 21 (2) ◽  
pp. 107-110
Author(s):  
Małgorzata Wiszniewska ◽  
◽  
Andrzelika Domagalska ◽  
◽  
Keyword(s):  
Psychiatric Disorder ◽  
Common Type ◽  
Diagnostic Methods ◽  
Diagnostic Process ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Progressive Encephalopathy ◽  
Initial Symptoms ◽  
Jakob Disease ◽  
Infectious Proteins

Creutzfeldt–Jakob disease is a rare, progressive spongiform encephalopathy caused by infectious proteins called prions. It is characterised by rapidly progressive dementia accompanied by cerebellar, visual, extrapyramidal, and pyramidal symptoms, as well as myoclonus and mutism in later stage of the disease. The most common type is sporadic Creutzfeldt– Jakob disease, accounting for 85% of all cases. Treatment of the disease is symptomatic. An important role in making the diagnosis is attributed to the observation of the patient and electroencephalography, showing characteristic cyclical discharges. We present the case of a patient whose first symptoms were psychiatric in nature, and who was diagnosed with Creutzfeldt–Jakob disease based on careful observation, presence of myoclonus, and repeated electroencephalography examinations in which typical 1–2 seconds of sharp and slow wave discharges appeared. By presenting this case of severe progressive encephalopathy, we would like to highlight the fact that even in the age of modern diagnostic methods, electroencephalography, which has been in use for many years, may be crucial in the diagnostic process. We would also like to point out that the initial symptoms of Creutzfeldt–Jakob disease may suggest a psychiatric disorder.

scholarly journals An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt–Jakob Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Parmvir Parmar ◽  
Curtis L. Cooper ◽  
Daniel Kobewka
Keyword(s):  
Differential Diagnosis ◽  
Cognitive Deficits ◽  
Autoimmune Encephalitis ◽  
Illustrative Case ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
History Of ◽  
Jakob Disease ◽  
Clinical Description ◽  
Sporadic Cjd

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.

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