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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Detalles Bibliográficos
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
Descripción
Sumario: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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