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

Daisy Bougard; Maxime Bélondrade; Charly Mayran; Lilian Bruyère-Ostells; Sylvain Lehmann; Chantal Fournier-Wirth; Richard S Knight; Robert G Will; Alison J E Green

doi:10.3201/eid2407.172105

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

Daisy Bougard, Maxime Bélondrade, Charly Mayran, Lilian Bruyère-Ostells, Sylvain Lehmann, Chantal Fournier-Wirth, Richard S Knight, Robert G Will, Alison J E Green

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1364-1366
Number of pages	3
Journal	Emerging Infectious Diseases
Volume	24
Issue number	7
DOIs	https://doi.org/10.3201/eid2407.172105
Publication status	Published - Jul 2018

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title = "Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification",

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.",

author = "Daisy Bougard and Maxime B{\'e}londrade and Charly Mayran and Lilian Bruy{\`e}re-Ostells and Sylvain Lehmann and Chantal Fournier-Wirth and Knight, {Richard S} and Will, {Robert G} and Green, {Alison J E}",

year = "2018",

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doi = "10.3201/eid2407.172105",

language = "English",

volume = "24",

pages = "1364--1366",

journal = "Emerging Infectious Diseases",

issn = "1080-6040",

publisher = "Centers for Disease Control and Prevention",

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Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification. / Bougard, Daisy; Bélondrade, Maxime; Mayran, Charly; Bruyère-Ostells, Lilian; Lehmann, Sylvain; Fournier-Wirth, Chantal; Knight, Richard S ; Will, Robert G ; Green, Alison J E.

In: Emerging Infectious Diseases, Vol. 24, No. 7, 07.2018, p. 1364-1366.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification

AU - Bougard, Daisy

AU - Bélondrade, Maxime

AU - Mayran, Charly

AU - Bruyère-Ostells, Lilian

AU - Lehmann, Sylvain

AU - Fournier-Wirth, Chantal

AU - Knight, Richard S

AU - Will, Robert G

AU - Green, Alison J E

PY - 2018/7

Y1 - 2018/7

N2 - 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.

AB - 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.

U2 - 10.3201/eid2407.172105

DO - 10.3201/eid2407.172105

M3 - Article

C2 - 29912702

VL - 24

SP - 1364

EP - 1366

JO - Emerging Infectious Diseases

JF - Emerging Infectious Diseases

SN - 1080-6040

IS - 7

ER -

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

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