Interpretation of cerebrospinal fluid protein tests in the diagnosis of sporadic Creutzfeldt–Jakob disease: an evidence-based approach

Coulthart, Michael B.; Jansen, Gerard H.; Cashman, Neil R.

doi:10.1503/cmaj.130720

Cited by 7 publications

(3 citation statements)

References 45 publications

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“…The most commonly used markers are 14-3-3 protein ( 5 ), microtubule-associated protein tau ( 6 ), and S100 protein ( 7 ). These surrogate markers are not fully diagnostic due to the fact that they have variable sensitivities and are not specific for any form of CJD ( 8 – 10 ).…”

Section: Introductionmentioning

confidence: 99%

Endpoint Quaking-Induced Conversion: a Sensitive, Specific, and High-Throughput Method for Antemortem Diagnosis of Creutzfeldt-Jacob Disease

et al. 2016

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The Prion Laboratory Section of the Public Health Agency of Canada supports heath care professionals dealing with patients suspected to have Creutzfeldt-Jakob disease (CJD) by testing cerebrospinal fluid (CSF) for protein markers of CJD. To better serve Canadian diagnostic requirements, a quaking-induced conversion (QuIC)-based assay has been added to the test panel. The QuIC tests exploit the ability of disease-associated prion protein, found in the CSF of a majority of CJD patients, to convert a recombinant prion protein (rPrP) into detectable amounts of a misfolded, aggregated form of rPrP. The rPrP aggregates interact with a specific dye, causing a measurable change in the dye's fluorescence emission spectrum. Optimal test and analysis parameters were empirically determined. Taking both practical and performance considerations into account, an endpoint QuIC (EP-QuIC) configuration was chosen. EP-QuIC uses a thermo-mixer to perform the shaking necessary to produce the quaking-induced conversions. Fluorescence readings are obtained from a microwell fluorescence reader only at the beginning and the end of EP-QuIC reactions. Samples for which the relative fluorescence unit ratio between the initial and final readings represent a ≥4 increase in signal intensity in at least two of the three replicates are classified as positive. A retrospective analysis of 91 CSF samples that included 45 confirmed cases of CJD and 46 non-CJD cases was used to estimate the performance characteristics of the EP-QuIC assay. The diagnostic sensitivity and specificity of the EP-QuIC test of this set of samples were 98 and 91%, respectively.

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Section: Introductionmentioning

confidence: 99%

Endpoint Quaking-Induced Conversion: a Sensitive, Specific, and High-Throughput Method for Antemortem Diagnosis of Creutzfeldt-Jacob Disease

et al. 2016

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“…Various lab tests are available for CJD diagnosis. The 14-3-3 protein detection test is one of the most common used for detecting 14-3-3 protein in CSF, but unfortunately test sensitivity and specificity vary in the range of 80-90% [ 6 ]. Furthermore, false-positive results have been observed in patients with various neurologic diseases, such as cerebral metastases, paraneoplastic diseases, and herpes simplex encephalitis [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Creutzfeldt–Jakob Disease: An Unusual Presentation of Corticobasal Syndrome

Gosden

Okromelidze

Sandhu

et al. 2020

Cureus

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Corticobasal syndrome is an atypical parkinsonian syndrome consisting of a constellation of clinical findings that can be the result of various etiologies. While most cases are a result of a tauopathy, such as corticobasal degeneration, other etiologies must be considered in the evaluation of patients presenting with corticobasal syndrome. We present a case of a patient presenting with clinical features of corticobasal syndrome due to a prion disease, Creutzfeldt-Jakob disease (CJD), who was initially misdiagnosed due to known pitfalls in the CJD diagnostic criteria. We further discuss this unusual manifestation of CJD presenting as corticobasal syndrome and relevant diagnostic consideration in the evaluation of this entity.

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“…The most commonly used markers are 14-3-3 2 and microtubuleassociated tau 3 . Although neither of these indirect markers is fully diagnostic, both have useful sensitivities and specificities for CJD 4 .…”

mentioning

confidence: 99%

Prospective Study Demonstrates Utility of EP-QuIC in Creutzfeldt–Jakob Disease Diagnoses

Simon

Peterson

Phillipson

et al. 2020

Can. J. Neurol. Sci.

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Prospectively acquired Canadian cerebrospinal fluid samples were used to assess the performance characteristics of three ante-mortem tests commonly used to support diagnoses of Creutzfeldt–Jakob disease. The utility of the end-point quaking-induced conversion assay as a test for Creutzfeldt–Jakob disease diagnoses was compared to that of immunoassays designed to detect increased amounts of the surrogate markers 14-3-3γ and hTau. The positive predictive values of the end-point quaking-induced conversion, 14-3-3γ, and hTau tests conducted at the Prion Diseases Section of the Public Health Agency of Canada were 96%, 68%, and 66%, respectively.

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Interpretation of cerebrospinal fluid protein tests in the diagnosis of sporadic Creutzfeldt–Jakob disease: an evidence-based approach

Cited by 7 publications

References 45 publications

Endpoint Quaking-Induced Conversion: a Sensitive, Specific, and High-Throughput Method for Antemortem Diagnosis of Creutzfeldt-Jacob Disease

Endpoint Quaking-Induced Conversion: a Sensitive, Specific, and High-Throughput Method for Antemortem Diagnosis of Creutzfeldt-Jacob Disease

Creutzfeldt–Jakob Disease: An Unusual Presentation of Corticobasal Syndrome

Prospective Study Demonstrates Utility of EP-QuIC in Creutzfeldt–Jakob Disease Diagnoses

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