The abnormal alterations of proteins 14-3-3 and tau in cerebrospinal fluid (CSF) are widely used for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), while the situations of CSF biomarkers in genetic prion diseases (gPrDs), particularly in Chinese gPrDs patients, have not been well documented.
Based on this mechanism, in vitro protein amplification systems (such as real-time quaking-induced conversion (RT-QuIC)) for the detection of misfolded prion protein scrapie (PrP<sup>res</sup>) in CSF were a major step in pre-mortem diagnosis of human prion diseases.
Accurate diagnosis of prion diseases and discrimination from alternative dementias gain importance in the clinical routine, but partial overlap in cerebrospinal fluid (CSF) biomarkers impedes absolute discrimination in the differential diagnostic context.