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!).