Accuracy of diagnosis criteria in patients with suspected diagnosis of sporadic Creutzfeldt-Jakob disease and detection of 14-3-3 protein, France, 1992 to 2009

Abstract : Diagnostic criteria of Creutzfeldt–Jakob disease (CJD), a rare and fatal transmissible nervous system disease with public health implications, are determined by clinical data, electroencephalogram (EEG), detection of 14-3-3 protein in cerebrospinal fluid (CSF), brain magnetic resonance imaging and prion protein gene examination. The specificity of protein 14-3-3 has been questioned. We reviewed data from 1,572 autopsied patients collected over an 18-year period (1992–2009) and assessed whether and how 14-3-3 detection impacted the diagnosis of sporadic CJD in France, and whether this led to the misdiagnosis of treatable disorders. 14-3-3 detection was introduced into diagnostic criteria for CJD in 1998. Diagnostic accuracy decreased from 92% for the 1992–1997 period to 85% for the 1998–2009 period. This was associated with positive detections of 14-3-3 in cases with negative EEG and alternative diagnosis at autopsy. Potentially treatable diseases were found in 163 patients (10.5%). This study confirms the usefulness of the recent modification of diagnosis criteria by the addition of the results of CSF real-time quaking-induced conversion, a method based on prion seed-induced misfolding and aggregation of recombinant prion protein substrate that has proven to be a highly specific test for diagnosis of sporadic CJD.
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Eurosurveillance, European Centre for Disease Prevention and Control, 2017, 22 (41), pp.21-28. 〈10.2807/1560-7917.ES.2017.22.41.16-00715〉
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Laurene Peckeu, Nicole Delasnerie-Lauprêtre, Jean-Philippe Brandel, Dominique Salomon, Véronique Sazdovitch, et al.. Accuracy of diagnosis criteria in patients with suspected diagnosis of sporadic Creutzfeldt-Jakob disease and detection of 14-3-3 protein, France, 1992 to 2009. Eurosurveillance, European Centre for Disease Prevention and Control, 2017, 22 (41), pp.21-28. 〈10.2807/1560-7917.ES.2017.22.41.16-00715〉. 〈hal-01622173〉

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