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Plasma neurofilament light and total tau show marked elevations in human prion disease patients with subtype correlations and prognostic value
Neurologists are fortunate to have splendid diagnostic tests for prion diseases. The cerebrospinal fluid (CSF) real-time quaking-induced conversion assay (RT-QuIC test), in which abnormal prion protein stimulates the misfolding of recombinant protein, has proven to be sensitive and extremely specific for Creutzfeldt-Jakob disease (CJD). MRI features too, particularly high signal from the cortex, striatum or thalamus on diffusion-weighted imaging, are highly characteristic. Why then is further biomarker research necessary?
Patients with CJD are too often diagnosed late in their clinical course when they can no longer contribute to plans for the end of their life or participate in clinical trials. As the annual incidence of sporadic CJD in many countries is substantially …
Contributors I wrote this commentary without help from anyone else.
Funding This study was funded by Medical Research Council (UK).
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.
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