Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients

Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jakob disease (CJD), including five assessed in vitam. The results con...

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Autores principales: Mammana, Angela, Baiardi, Simone, Rossi, Marcello, Franceschini, Alessia, Donadio, Vincenzo, Capellari, Sabina, Caughey, Byron, Parchi, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187701/
https://www.ncbi.nlm.nih.gov/pubmed/32141717
http://dx.doi.org/10.1002/acn3.51000
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author Mammana, Angela
Baiardi, Simone
Rossi, Marcello
Franceschini, Alessia
Donadio, Vincenzo
Capellari, Sabina
Caughey, Byron
Parchi, Piero
author_facet Mammana, Angela
Baiardi, Simone
Rossi, Marcello
Franceschini, Alessia
Donadio, Vincenzo
Capellari, Sabina
Caughey, Byron
Parchi, Piero
author_sort Mammana, Angela
collection PubMed
description Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jakob disease (CJD), including five assessed in vitam. The results confirmed the high value of skin prion RT‐QuIC for CJD diagnosis (89% sensitivity and 100% specificity) and support its use in clinical practice. Preliminary data based on a limited number of cases suggest that prion‐seeding activity in the skin varies according to the prion strain, being higher in sporadic CJD subtypes linked to the V2 strain (VV2 and MV2K) than in typical CJDMM1.
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spelling pubmed-71877012020-04-29 Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients Mammana, Angela Baiardi, Simone Rossi, Marcello Franceschini, Alessia Donadio, Vincenzo Capellari, Sabina Caughey, Byron Parchi, Piero Ann Clin Transl Neurol Brief Communications Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jakob disease (CJD), including five assessed in vitam. The results confirmed the high value of skin prion RT‐QuIC for CJD diagnosis (89% sensitivity and 100% specificity) and support its use in clinical practice. Preliminary data based on a limited number of cases suggest that prion‐seeding activity in the skin varies according to the prion strain, being higher in sporadic CJD subtypes linked to the V2 strain (VV2 and MV2K) than in typical CJDMM1. John Wiley and Sons Inc. 2020-03-06 /pmc/articles/PMC7187701/ /pubmed/32141717 http://dx.doi.org/10.1002/acn3.51000 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communications
Mammana, Angela
Baiardi, Simone
Rossi, Marcello
Franceschini, Alessia
Donadio, Vincenzo
Capellari, Sabina
Caughey, Byron
Parchi, Piero
Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title_full Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title_fullStr Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title_full_unstemmed Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title_short Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
title_sort detection of prions in skin punch biopsies of creutzfeldt–jakob disease patients
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187701/
https://www.ncbi.nlm.nih.gov/pubmed/32141717
http://dx.doi.org/10.1002/acn3.51000
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