Registers and surveillance
National Registry of Creutzfeldt-Jakob disease and related disorders
Reporting a new case of CJD or related syndrome and biochemical and genetic diagnostic investigations
Clinicians are asked to report a new case of CJD or related syndrome by email or by faxing the attached form below to the following number 06-49903012 with a copy to the local Health Protection Department and to the Health Ministry. The result of the neuropathological assessment, both positive and negative, must be communicated to the health authorities receiving the report (Decree 21 December 2001).
The laboratory's activity includes biochemical and genetic tests for the diagnosis of prion diseases.
We will no longer provide CSF 14-3-3, but will continue to provide CSF RT-QuIC analysis. CSF RT-QuIC has a superior sensitivity and specificity for the diagnosis of sporadic CJD when compared to other CSF biomarkers including CSF 14-3-3.
The laboratory's activity is linked with the research program in collaboration with other Italian and European groups in projects that mainly concern the study of the molecular basis of phenotypic variability, the definition of diagnostic criteria, the study of new biomarkers, even early ones, of disease.
Therefore, together with the consent forms for diagnostic tests, please indicate the possibility of using the residual samples for research purposes.
The Registry during the COVID-19 pandemic
We are still providing the diagnostic service during the COVID-19 pandemic.
However, delays in sending the results are possible.