Titre
Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease.
Type
article
Institution
Externe
Périodique
Auteur(s)
Collins, S.J.
Auteure/Auteur
Sanchez-Juan, P.
Auteure/Auteur
Masters, C.L.
Auteure/Auteur
Klug, G.M.
Auteure/Auteur
van Duijn, C.
Auteure/Auteur
Poleggi, A.
Auteure/Auteur
Pocchiari, M.
Auteure/Auteur
Almonti, S.
Auteure/Auteur
Cuadrado-Corrales, N.
Auteure/Auteur
de Pedro-Cuesta, J.
Auteure/Auteur
Budka, H.
Auteure/Auteur
Gelpi, E.
Auteure/Auteur
Glatzel, M.
Auteure/Auteur
Tolnay, M.
Auteure/Auteur
Hewer, E.
Auteure/Auteur
Zerr, I.
Auteure/Auteur
Heinemann, U.
Auteure/Auteur
Kretszchmar, H.A.
Auteure/Auteur
Jansen, G.H.
Auteure/Auteur
Olsen, E.
Auteure/Auteur
Mitrova, E.
Auteure/Auteur
Alpérovitch, A.
Auteure/Auteur
Brandel, J.P.
Auteure/Auteur
Mackenzie, J.
Auteure/Auteur
Murray, K.
Auteure/Auteur
Will, R.G.
Auteure/Auteur
Liens vers les personnes
ISSN
1460-2156
Statut éditorial
Publié
Date de publication
2006-09
Volume
129
Numéro
Pt 9
Première page
2278
Dernière page/numéro d’article
2287
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
To validate the provisional findings of a number of smaller studies and explore additional determinants of characteristic diagnostic investigation results across the entire clinical spectrum of sporadic Creutzfeldt-Jakob disease (CJD), an international collaborative study was undertaken comprising 2451 pathologically confirmed (definite) patients. We assessed the influence of age at disease onset, illness duration, prion protein gene (PRNP) codon 129 polymorphism (either methionine or valine) and molecular sub-type on the diagnostic sensitivity of EEG, cerebral MRI and the CSF 14-3-3 immunoassay. For EEG and CSF 14-3-3 protein detection, we also assessed the influence of the time point in a patient's illness at which the investigation was performed on the likelihood of a typical or positive result. Analysis included a large subset of patients (n = 743) in whom molecular sub-typing had been performed using a combination of the PRNP codon 129 polymorphism and the form of protease resistant prion protein [type 1 or 2 according to Parchi et al. (Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, Poser S, Rojiani A, Streichemberger N, Julien J, Vital C, Ghetti B, Gambetti P, Kretzschmar H. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999; 46: 224-233.)] present in the brain. Findings for the whole group paralleled the subset with molecular sub-typing data available, showing that age at disease onset and disease duration were independent determinants of typical changes on EEG, while illness duration significantly influenced positive CSF 14-3-3 protein detection; changes on brain MRI were not influenced by either of these clinical parameters, but overall, imaging data were less complete and consequently conclusions are more tentative. In addition to age at disease onset and illness duration, molecular sub-type was re-affirmed as an important independent determinant of investigation results. In multivariate analyses that included molecular sub-type, time point of the investigation during a patient's illness was found not to influence the occurrence of a typical or positive EEG or CSF 14-3-3 protein result. A typical EEG was most often seen in MM1 patients and was significantly less likely in the MV1, MV2 and VV2 sub-types, whereas VV2 patients had an increased likelihood of a typical brain MRI. Overall, the CSF 14-3-3 immunoassay was the most frequently positive investigation (88.1%) but performed significantly less well in the very uncommon MV2 and MM2 sub-types. Our findings confirm a number of determinants of principal investigation results in sporadic CJD and underscore the importance of recognizing these pre-test limitations before accepting the diagnosis excluded or confirmed. Combinations of investigations offer the best chance of detection, especially for the less common molecular sub-types such as MV2 and MM2.
Sujets
PID Serval
serval:BIB_AB4DB700697C
PMID
Open Access
Oui
Date de création
2020-08-31T11:02:52.862Z
Date de création dans IRIS
2025-05-21T01:50:32Z
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Version du manuscrit
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