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Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases

17 Sept 2021

Abstract excerpt

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...

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PMID: 35288744
DOI: 10.1093/brain/awab350

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