{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:11:14Z","timestamp":1792030274705,"version":"4.4.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"vor","delay-in-days":42,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"CERCA Programme of the Generalitat de Catalunya for institutional"},{"DOI":"10.13039\/501100004587","name":"Institute of Health Carlos III","doi-asserted-by":"crossref","award":["CP\/00041 and PI19\/00144"],"award-info":[{"award-number":["CP\/00041 and PI19\/00144"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003107","name":"Federal Ministry of Health","doi-asserted-by":"publisher","award":["1369\u2013341"],"award-info":[{"award-number":["1369\u2013341"]}],"id":[{"id":"10.13039\/501100003107","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Beatriu de Pin\u00f3s programme","award":["2018-BP-00129"],"award-info":[{"award-number":["2018-BP-00129"]}]},{"name":"Ministry of Business and Knowledge of the Government of Catalonia"},{"name":"EU Horizon 2020 programme under an MSCA","award":["801370"],"award-info":[{"award-number":["801370"]}]},{"name":"NHMRC Practitioner Fellowship","award":["#APP1105784"],"award-info":[{"award-number":["#APP1105784"]}]},{"name":"US National Institutes of Health (NIH), National Institute of Aging","award":["R01AG031189, R01AG062562 and R56 AG055619"],"award-info":[{"award-number":["R01AG031189, R01AG062562 and R56 AG055619"]}]},{"name":"Robert-Koch Institute through funds of the Federal Ministry of Health","award":["1369-341"],"award-info":[{"award-number":["1369-341"]}]},{"name":"CJD Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n                  <jats:p>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.<\/jats:p>\n                  <jats:p>CSF samples were assessed for the surrogate markers of neurodegeneration, 14-3-3 protein (14-3-3), total-tau protein (t-tau) and \u03b1-synuclein and for prion seeding activity through the real-time quaking-induced conversion assay. Biomarker results were compared with those obtained in healthy and neurological controls. For the most prevalent PRNP pathogenic sequence variations, biomarker accuracy and associations between biomarkers, demographic and genetic determinants were assessed. Additionally, the prognostic value of biomarkers for predicting total disease duration from symptom onset to death was investigated.<\/jats:p>\n                  <jats:p>High sensitivity of the four biomarkers was detected for genetic Creutzfeldt\u2013Jakob disease associated with the E200K and V210I mutations, but low sensitivity was observed for mutations associated with Gerstmann\u2013Str\u00e4ussler\u2013Scheinker syndrome and fatal familial insomnia. All biomarkers showed good to excellent specificity using the standard cut-offs often used for sporadic Creutzfeldt\u2013Jakob disease. In genetic prion diseases related to octapeptide repeat insertions, the biomarker sensitivity correlated with the number of repeats. New genetic prion disease-specific cut-offs for 14-3-3, t-tau and \u03b1-synuclein were calculated. Disease duration in genetic Creutzfeldt\u2013Jakob disease-E200K, Gerstmann\u2013Str\u00e4ussler\u2013Scheinker-P102L and fatal familial insomnia was highly dependent on PRNP codon 129 MV polymorphism and was significantly associated with biomarker levels.<\/jats:p>\n                  <jats:p>In a large cohort of genetic prion diseases, the simultaneous analysis of CSF prion disease biomarkers allowed the determination of new mutation-specific cut-offs improving the discrimination of genetic prion disease cases and unveiled genetic prion disease-specific associations with disease duration.<\/jats:p>","DOI":"10.1093\/brain\/awab350","type":"journal-article","created":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T15:13:42Z","timestamp":1631891622000},"page":"700-712","source":"Crossref","is-referenced-by-count":45,"title":["Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases"],"prefix":"10.1093","volume":"145","author":[{"given":"Matthias","family":"Schmitz","sequence":"first","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Villar-Piqu\u00e9","sequence":"additional","affiliation":[{"name":"Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Institute of Health Carlos III (ISCIII), L\u2019Hospitalet de Llobregat, Spain"},{"name":"Bellvitge Biomedical Research Institute (IDIBELL), L\u2019Hospitalet del Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hermann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge\u00f2rgia","family":"Escaram\u00eds","sequence":"additional","affiliation":[{"name":"CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain"},{"name":"Department of Biomedical Sciences, Institute of Neuroscience, University of Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Calero","sequence":"additional","affiliation":[{"name":"Alzheimer Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Center Madrid, Madrid, Spain"},{"name":"Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Institute Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cao","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Kruse","sequence":"additional","affiliation":[{"name":"Institute for Neuropathology, University Medical Center G\u00f6ttingen, G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cramm","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Golanska","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology and Neuropathology Medical University of Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Sikorska","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology and Neuropathology Medical University of Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel P","family":"Liberski","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology and Neuropathology Medical University of Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pocchiari","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lange","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Stehmann","sequence":"additional","affiliation":[{"name":"Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Sarros","sequence":"additional","affiliation":[{"name":"Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eul\u00e0lia","family":"Mart\u00ed","sequence":"additional","affiliation":[{"name":"CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain"},{"name":"Department of Biomedical Sciences, Institute of Neuroscience, University of Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Baldeiras","sequence":"additional","affiliation":[{"name":"Laboratory of Neurochemistry, Coimbra University Hospital, Coimbra, Portugal"},{"name":"Faculty of Medicine, University of Coimbra, Coimbra, Portugal"},{"name":"Centre for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Santana","sequence":"additional","affiliation":[{"name":"Laboratory of Neurochemistry, Coimbra University Hospital, Coimbra, Portugal"},{"name":"Faculty of Medicine, University of Coimbra, Coimbra, Portugal"},{"name":"Centre for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"\u017d\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Prion Diseases, Slovak Medical University Bratislava, Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Mitrov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Prion Diseases, Slovak Medical University Bratislava, Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Ping","family":"Dong","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Collins","sequence":"additional","affiliation":[{"name":"Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Australia"},{"name":"Department of Medicine (RMH), The University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Poleggi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ladogana","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brit","family":"Mollenhauer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center G\u00f6ttingen, G\u00f6ttingen, Germany"},{"name":"Paracelsus-Elena Klinik, Center for Parkinsonism and Movement Disorders, Kassel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor G","family":"Kovacs","sequence":"additional","affiliation":[{"name":"Neuropathology and Prion Disease Reference Center, Department of Forensic and Insurance Medicine, Semmelweis University, Budapest, Hungary"},{"name":"Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria"},{"name":"Tanz Centre for Research in Neurodegenerative Disease (CRND) and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada"},{"name":"Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D","family":"Geschwind","sequence":"additional","affiliation":[{"name":"Department of Neurology, Memory and Aging Center, University of California, San Francisco (UCSF), San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"S\u00e1nchez-Valle","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Zerr","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franc","family":"Llorens","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, G\u00f6ttingen, Germany"},{"name":"Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Institute of Health Carlos III (ISCIII), L\u2019Hospitalet de Llobregat, Spain"},{"name":"Bellvitge Biomedical Research Institute (IDIBELL), L\u2019Hospitalet del Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,3,15]]},"reference":[{"issue":"4","key":"2022041818325181200_awab350-B1","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.ncl.2018.07.005","article-title":"Prion Diseases","volume":"36","author":"Tee","year":"2018","journal-title":"Neurol Clin"},{"issue":"6","key":"2022041818325181200_awab350-B2","doi-asserted-by":"crossref","first-page":"4138","DOI":"10.1007\/s12035-016-9918-y","article-title":"Hereditary human prion diseases: An update","volume":"54","author":"Schmitz","year":"2017","journal-title":"Mol Neurobiol"},{"issue":"1","key":"2022041818325181200_awab350-B3","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/ajmg.b.32505","article-title":"Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature","volume":"174","author":"Takada","year":"2017","journal-title":"Am J Med Genet Part B Neuropsychiatr Genet"},{"key":"2022041818325181200_awab350-B4","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1093\/bmb\/66.1.213","article-title":"Sporadic and familial CJD: Classification and characterisation","volume":"66","author":"Gambetti","year":"2003","journal-title":"Br Med Bull"},{"issue":"5083","key":"2022041818325181200_awab350-B5","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1126\/science.1439789","article-title":"Fatal familial insomnia and familial Creutzfeldt\u2013Jakob disease: Disease phenotype determined by a DNA polymorphism","volume":"258","author":"Goldfarb","year":"1992","journal-title":"Science"},{"issue":"8","key":"2022041818325181200_awab350-B6","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1136\/jnnp.2003.020198","article-title":"Octapeptide repeat insertions in the prion protein gene and early onset dementia","volume":"75","author":"Croes","year":"2004","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt 10","key":"2022041818325181200_awab350-B7","doi-asserted-by":"crossref","first-page":"2659","DOI":"10.1093\/brain\/awp191","article-title":"Updated clinical diagnostic criteria for sporadic Creutzfeldt\u2013Jakob disease","volume":"132","author":"Zerr","year":"2009","journal-title":"Brain"},{"issue":"4","key":"2022041818325181200_awab350-B8","doi-asserted-by":"crossref","first-page":"e331","DOI":"10.1212\/WNL.0000000000005860","article-title":"Validation and utilization of amended diagnostic criteria in Creutzfeldt\u2013Jakob disease 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