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Sci Rep. 2016 Dec 8;6:38737. doi: 10.1038/srep38737.

Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.

Author information

Department of Neurology, Ulm University, Ulm, Germany.
Inst. of Neuroscience and Physiology, Dept. of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
Center for Neuropathology and Prion Research, Ludwig-Maximilians University, Munich, Germany.
Neurology, Departments of Medicine, Biomedicine and Clinical research, University Hospital Basel, Basel, Switzerland.
Department of Prion Diseases, Slovak Medical University, Bratislava, Slovakia.
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.


While cerebrospinal fluid (CSF) biomarkers for Creutzfeldt-Jakob disease (CJD) are established and partly included in the diagnostic criteria, no blood biomarkers are available. Here, we assessed the utility of serum neurofilament light chain (NF-L) and tau protein in comparison to CSF markers (NF-L and phosphorylated NF heavy chain (pNF-H), tau, S100B, 14-3-3) and prion conversion assay (real-time quaking induced conversion (RT-QuIC)) for sporadic and genetic CJD. Importantly, a Gerstmann-Sträussler-Scheinker mutation carrier in the asymptomatic phase and at disease onset was included as well. Both NF-L and tau were markedly increased in CJD serum, reaching similar or even better performance as in CSF (sensitivity and specificity for serum NF-L 100% and 85.5%, and for serum tau 84.6% and 96.2%, respectively). Serum S100B showed high sensitivity as well (84.2%), but lower specificity (63%). CSF neurofilaments were increased before symptom onset, while prion seeding assay was negative. Just before a clinical diagnosis could be made, all CSF markers and NF-L in the serum were increased and CSF prion conversion assay was positive. The data suggest that neurofilaments are sensitive and specific blood markers for the diagnosis of genetic and sporadic CJD and might represent promising tools to predict disease onset.

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