Journal article
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases
M Schmitz, A Villar-Piqué, P Hermann, G Escaramís, M Calero, C Chen, N Kruse, M Cramm, E Golanska, B Sikorska, PP Liberski, M Pocchiari, P Lange, C Stehmann, S Sarros, E Martí, I Baldeiras, I Santana, D Žková, E Mitrová Show all
Brain | Published : 2022
Abstract
Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases are limited and conflicting results have been reported for unclear reasons. Here, we aimed to analyse the diagnostic accuracy of CSF biomarkers currently used in prion clinical diagnosis in 302 symptomatic genetic prion disease cases from 11 prion diagnostic centres, encompassing a total of 36 different pathogenic sequence variations within the open reading frame of PRNP. CSF samples were assessed for the surrogate markers of neurodegeneration, 14-3-3 protein (14-3-3), ..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
We thank CERCA Programme of the Generalitat de Catalunya for institutional support. This research was funded by the Institute of Health Carlos III (ISCIII) (grants CP/00041 and PI19/00144) to F.L. and by the Robert Koch Institute through funds from the Federal Ministry of Health (grant No. 1369-341) to I.Z. A.V.P. is supported by the Beatriu de Pinos programme (2018-BP-00129) from the Ministry of Business and Knowledge of the Government of Catalonia, co-funded by the EU Horizon 2020 programme under an MSCA grant agreement (801370). S.C. is supported in part by an NHMRC Practitioner Fellowship (#APP1105784). For this manuscript, M.D.G. was supported by the US National Institutes of Health (NIH), National Institute of Aging (NIA) grants R01AG031189, R01AG062562 and R56 AG055619. I.Z. is supported by the Robert-Koch Institute through funds of the Federal Ministry of Health (no. 1369-341) and by the CJD Foundation (Title: Implementation of a blood based biomarker test for sporadic Creutzfeldt-Jakob disease and clinical pratice).