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- Title
Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification.
- Authors
Bougard, Daisy; Bélondrade, Maxime; Mayran, Charly; Bruyère-Ostells, Lilian; Lehmann, Sylvain; Fournier-Wirth, Chantal; Knight, Richard S.; Will, Robert G.; Green, Alison J. E.
- Abstract
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.
- Subjects
CREUTZFELDT-Jakob disease; METHIONINE; VALINE; GENOTYPES; BIOLOGICAL assay; GENE amplification; PRION genetics; CEREBROSPINAL fluid
- Publication
Emerging Infectious Diseases, 2018, Vol 24, Issue 7, p1364
- ISSN
1080-6040
- Publication type
journal article
- DOI
10.3201/eid2407.172105