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

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Bougard, Daisy | Belondrade, Maxime | Mayran, Charly | Bruyère-Ostells, Lilian | Lehmann, Sylvain | Fournier-Wirth, Chantal | Knight, Richard, A. | Will, Robert | Green, Alison J.E.

Edité par CCSD ; Centers for Disease Control and Prevention -

International audience. A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported. Using an ultrasensitive and specific protein misfolding cyclic amplification-based assay for detecting variant CJD prions in cerebrospinal fluid, we discriminated this heterozygous case of variant CJD from cases of sporadic CJD.

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