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Title: Cerebrospinal fluid total prion protein in the spectrum of prion diseases
Author: Villar Piqué, Anna
Schmitz, Matthias
Lachmann, Ingolf
Karch, André
Calero, Olga
Stehmann, Christ
Sarros, Shannon
Ladogana, Anna Sánchez
Poleggi, Anna
Santana, Isabel
Ferrer, Isidro (Ferrer Abizanda)
Mitrova, Eva
áková, Dana
Pocchiari, Maurizio
Baldeiras, Inês
Calero, Miguel
Collins, Steven J.
Geschwind, Michael D.
Sánchez del Valle Díaz, Raquel
Zerr, Inga
Llorens Torres, Franc
Keywords: Malalties per prions
Líquid cefalorraquidi
Prion diseases
Cerebrospinal fluid
Issue Date: 1-Apr-2019
Publisher: Humana Press.
Abstract: Cerebrospinal fluid (CSF) total prion protein (t-PrP) is decreased in sporadic Creutzfeldt-Jakob disease (sCJD). However, data on the comparative signatures of t-PrP across the spectrum of prion diseases, longitudinal changes during disease progression, and levels in pre-clinical cases are scarce. T-PrP was quantified in neurological diseases (ND, n = 147) and in prion diseases from different aetiologies including sporadic (sCJD, n = 193), iatrogenic (iCJD, n = 12) and genetic (n = 209) forms. T-PrP was also measured in serial lumbar punctures obtained from sCJD cases at different symptomatic disease stages, and in asymptomatic prion protein gene (PRNP) mutation carriers. Compared to ND, t-PrP concentrations were significantly decreased in sCJD, iCJD and in genetic prion diseases associated with the three most common mutations E200K, V210I (associated with genetic CJD) and D178N-129M (associated with fatal familial insomnia). In contrast, t-PrP concentrations in P102L mutants (associated with the Gerstmann-Sträussler-Scheinker syndrome) remained unaltered. In serial lumbar punctures obtained at different disease stages of sCJD patients, t-PrP concentrations inversely correlated with disease progression. Decreased mean t-PrP values were detected in asymptomatic D178-129M mutant carriers, but not in E200K and P102L carriers. The presence of low CSF t-PrP is common to all types of prion diseases regardless of their aetiology albeit with mutation-specific exceptions in a minority of genetic cases. In some genetic prion disease, decreased levels are already detected at pre-clinical stages and diminish in parallel with disease progression. Our data indicate that CSF t-PrP concentrations may have a role as a pre-clinical or early symptomatic diagnostic biomarker in prion diseases as well as in the evaluation of therapeutic interventions.
Note: Versió postprint del document publicat a:
It is part of: Molecular Neurobiology, 2019, vol. 56, num. 4, p. 2811-2821
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ISSN: 0893-7648
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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