Creutzfeldt-Jakob Disease: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests.

  • Cerebrospinal fluid (CSF) puncture (collection of cerebrospinal fluid by puncturing the spinal canal) for CSF diagnosis – can be determined by the detection of
    • Proteins: 14-3-3, tau, NSE, or S100b.
    • RT-QuIC [“real-time quaking-induced conversion”] to detect increased aggregation propensity of PrP [prion protein]) [safe clinical diagnosis according to current knowledge].

    support the tentative diagnosis*

  • Prion detection in the olfactory epithelium of the nose (tissue sampling using an endoscope; directly at the entry site of the olfactory nerve) [in preparation].
  • Measurement of brain-specific neurofilaments

2nd order laboratory parameters – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification.

  • Mutations in the prion protein gene (PRNP) – to detect a genetic form of the disease.
  • Codon 129 genotype of the prion protein gene – for evaluation of additional diagnostic tests and for assignment of the molecular subtype of CJD.

* Reportable in the sense of the Infection Protection Act: the direct or indirect detection of human spongiform encephalopathy, except familial hereditary forms (report by name!).