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http://hdl.handle.net/2445/144629
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DC Field | Value | Language |
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dc.contributor.author | Villar Piqué, Anna | - |
dc.contributor.author | Schmitz, Matthias | - |
dc.contributor.author | Lachmann, Ingolf | - |
dc.contributor.author | Karch, André | - |
dc.contributor.author | Calero, Olga | - |
dc.contributor.author | Stehmann, Christ | - |
dc.contributor.author | Sarros, Shannon | - |
dc.contributor.author | Ladogana, Anna | - |
dc.contributor.author | Poleggi, Anna | - |
dc.contributor.author | Santana, Isabel | - |
dc.contributor.author | Ferrer, Isidro (Ferrer Abizanda) | - |
dc.contributor.author | Mitrova, Eva | - |
dc.contributor.author | Žáková, Dana | - |
dc.contributor.author | Pocchiari, Maurizio | - |
dc.contributor.author | Baldeiras, Inês | - |
dc.contributor.author | Calero, Miguel | - |
dc.contributor.author | Collins, Steven J. | - |
dc.contributor.author | Geschwind, Michael D. | - |
dc.contributor.author | Sánchez del Valle Díaz, Raquel | - |
dc.contributor.author | Zerr, Inga | - |
dc.contributor.author | Llorens Torres, Franc | - |
dc.date.accessioned | 2019-11-12T16:00:31Z | - |
dc.date.available | 2020-04-01T05:10:17Z | - |
dc.date.issued | 2019-04-01 | - |
dc.identifier.issn | 0893-7648 | - |
dc.identifier.uri | http://hdl.handle.net/2445/144629 | - |
dc.description.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. | - |
dc.format.extent | 11 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Humana Press. | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1007/s12035-018-1251-1 | - |
dc.relation.ispartof | Molecular Neurobiology, 2019, vol. 56, num. 4, p. 2811-2821 | - |
dc.relation.uri | https://doi.org/10.1007/s12035-018-1251-1 | - |
dc.rights | (c) Humana Press., 2019 | - |
dc.source | Articles publicats en revistes (Patologia i Terapèutica Experimental) | - |
dc.subject.classification | Malalties per prions | - |
dc.subject.classification | Líquid cefalorraquidi | - |
dc.subject.classification | Patologia | - |
dc.subject.other | Prion diseases | - |
dc.subject.other | Cerebrospinal fluid | - |
dc.subject.other | Pathology | - |
dc.title | Cerebrospinal fluid total prion protein in the spectrum of prion diseases | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.identifier.idgrec | 689457 | - |
dc.date.updated | 2019-11-12T16:00:32Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30062673 | - |
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)) |
Files in This Item:
File | Description | Size | Format | |
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689457.pdf | 1.11 MB | Adobe PDF | View/Open |
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