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Volume 24, Number 7—July 2018
Dispatch

Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification

Daisy BougardComments to Author , Maxime Bélondrade, Charly Mayran, Lilian Bruyère-Ostells, Sylvain Lehmann, Chantal Fournier-Wirth, Richard S. Knight, Robert G. Will, and Alison J.E. Green
Author affiliations: Etablissement Français du Sang, Montpellier, France (D. Bougard, M. Bélondrade, C. Mayran, L. Bruyère-Ostells, C. Fournier-Wirth); University of Montpellier, Montpellier (S. Lehmann); University of Edinburgh, Edinburgh, Scotland, UK (R.S. Knight, R.G. Will, A.J.E. Green)

Main Article

Table

Analysis of CSF samples from patients with CJD and controls by PMCA*

Diagnosis No. patients with positive detection of PrPTSE in CSF and codon 129 genotype/no. tested
Analytical performance, % (95% CI)
Total MM MV VV
Clinical CJD
Variant CJD 40/41† 37/38 1/1 NA Diagnostic sensitivity 97.6 (87.1–99.9)
Definite 29/29 28/28 1/1 NA
Probable 10/11 8/9 NA NA
Possible 1/1 1/1 NA NA
Sporadic CJD 0/23† 0/7 0/12 0/3 Analytic specificity 100 (93.7–100)
Definite 0/14 0/2‡ 0/10 0/1‡
Probable 0/9 0/5 0/2 0/2
Genetic CJD 0/1 0/1 NA NA Analytic specificity 100 (93.7–100)
Non-CJD Analytic specificity 100 (93.7–100)
Alzheimer’s disease 0/12 ND ND ND
Other nonneurodegenerative diseases 0/21 ND ND ND

*CJD, Creutzfeldt-Jakob disease; CSF, cerebrospinal fluid; MM, methionine homozygous; MV, methionine/valine heterozygous; NA, not available; ND, not determined; PMCA, protein misfolding cyclic amplification; PrPTSE, abnormal prion protein; VV, valine homozygous.
†Genotyping of the prion protein gene at codon 129 was not conducted for 2 patients with variant CJD and 1 patient with sporadic CJD.
‡The protease-resistant protein subtype was available for 3 patients with definite sporadic CJD and showed an equal distribution of MM1, MM2a, and VV2a.

Main Article

Page created: June 18, 2018
Page updated: June 18, 2018
Page reviewed: June 18, 2018
The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. Use of trade names is for identification only and does not imply endorsement by any of the groups named above.
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