Diagnosis of prion diseases

Diagnostics of prion diseases

Histological examinations (autopsy tissue, possibly brain biopsies)

In addition to the usual neuropathological staining, immunohistochemical examination with antibodies against the disease-specific prion protein in brain tissue is used in cases of suspected Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), sporadic or fatal familial insomnia (SFI/FFI), or atypical prion diseases / atypical dementias, for which special section pretreatment, the use of proven antibodies and experience in assessment are essential. A detailed written assessment will be prepared for each case submitted and sent to the sender.

Biochemical examinations (autopsy tissue, possibly brain biopsies)

Biochemical methods (immunoblot, SDS-PAGE) are used to determine the type of disease-specific prion protein (PrP-res) in the brain tissue. This is an important confirmatory diagnostic test and is necessary for the precise classification of certain subtypes of human prion diseases. The findings are assessed and sent to the sender.

PRNP gene analysis

In close cooperation with Prof. Dieter Zimmermann, we carry out molecular genetic testing of the prion gene(PRNP) at the request of the sender. This is of particular importance if hereditary forms of prion diseases are suspected.

Material to be preserved (autopsy tissue)

For the histological examinations, we require the formalin-fixed brain or paraffin-embedded brain tissue from various regions, preferably from the areas specified in the NRPE sampling protocol. The sampling of peripheral tissue and organs such as muscles, lymph nodes, tonsilla palatina, spleen, peripheral nerve (e.g. sciatic, femoral nerve) and peripheral blood is also advantageous. Sampling protocol. For the biochemical tests, we require deep-frozen brain tissue (preferably shock-frozen in liquid nitrogen, preferably stored at -80°C), ideally from different regions and with peripheral organs as listed in the sampling protocol.

Safety note

Although previous studies have shown that the brain and spinal cord are the most infectious areas, there is also a potential risk for dissection personnel when opening the thoracic and abdominal cavities. For biosafety reasons, the dissection of the thoracic and abdominal cavities should be carried out in accordance with the following guidelines.