Journal article

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haik, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr



Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrPSc). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, could aid the diagnostic process. However, discordant studies have led to controversies about the clinical value of some established surrogate biomarkers. Development and clinical application of disease-specific protein aggregation and amplification assays, such as real-time quaking induced conversion (RT-QuIC)..

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Awarded by German Federal Ministry of Health through Robert Koch Institute

Awarded by NHMRC Practitioner Fellowship

Awarded by Institute of Health Carlos III

Awarded by US National Institutes of Health

Awarded by Ministry of Health, Labour and Welfare of Japan

Awarded by Japan Agency for Medical Research and Development

Funding Acknowledgements

The research of IZ and PH was funded by the German Federal Ministry of Health through grants from the Robert Koch Institute (grant 139-341). BC was funded by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. SJC is funded in part by a NHMRC Practitioner Fellowship (ID#APP1105784). FL was supported by grant from the Institute of Health Carlos III, grant PI19/00144. MG was supported by grants from the US National Institutes of Health (R01-AG AG031189, R01-AG062562, R56-AG055619) and funding from Michael J Homer Family Fund and Alliance Biosecure. KS was supported by grants for scientific research from the Ministry of Health, Labour and Welfare of Japan (KSat: 14507303), Rsearch on Policy Planning and Evaluation for Rare and Intractable Diseases, Health and Labour Sciences Research Grants, the Research Committee of Surveillance and Infection Control of Prion Disease, the Ministry of Health, Labour, and Welfare of Japan, and the Japan Agency for Medical Research and Development (grant 18ek0109362h0001). The funding sources had no role in the study design or the collection, analysis, and interpretation of data, in the writing of the report and in the decision to submit the paper for publication. PH had full access to all the data in the Review and had final responsibility for the decision to submit for publication. The authors want to thank Terri Lindsay from the European Creutzfeldt-Jakob Disease Surveillance Network, Suzanne Solvyns from the Creutzfeldt-Jakob Disease International Support Alliance, and esearch Committee of Prion Disease and Slow Virus Infection, ReDebbie Yobs from the Creutzfeldt-Jakob Disease Foundation for helping with information on international Creutzfeldt-Jakob Disease referral centres and family associations. PH accessed the case history information (panel 1) from the German National Reference Center for Transmissible Spongiform Encephalopathies (Gottingen, Germany).