Prion Diseases Section
The Prion Diseases Section provides national reference services in support of health care professionals dealing with suspected cases of Creutzfeldt-Jakob Disease (CJD). Accredited CJD testing includes the detection of increased amounts of protein markers of disease found in patients’ cerebrospinal fluid (CSF). The levels of two indirect markers of disease, gamma 14-3-3 and total tau are measured by enzyme-linked immunosorbent assay (ELISA) based tests. The presence of the pathogenic prion protein in CSF is detected by end-point quaking-induced conversion (EP- QuIC) assay. These CSF based tests are offered as a panel. Collectively the test results support diagnoses of CJD.
The Prion Diseases Section supports further investigation of CJD cases by providing genetic sequence analysis of PRNP (the gene encoding the prion protein). Sequence analyses confirm or exclude the presence of mutations linked to inherited prion diseases. Due to the privacy considerations surrounding sequencing of patient DNA, consent must be obtained prior to this analysis being performed. Consent forms are available through the CJD Surveillance System: 1-888-489-2999.