A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population
- 228 Downloads
Creutzfeldt-Jakob disease (CJD) is a fatal, incurable human transmissible spongiform encephalopathy, or prion disease. Classical CJD has been recognised since the 1920s. CJD occurs in three forms : sporadic, of unknown origin, genetic, related to disease specific point mutations, insertions or deletions of the prion protein gene (PRNP) and iatrogenic (iCJD), caused by accidental transmission of the disease in the course of medical or surgical treatment. A new variant of CJD, which is causally related to bovine spongiform encephalopathy (BSE) was first described by Will et al. in 1996.
The risk of horizontal transmission of CJD has been confirmed in classical  as well as in variant CJD. Precautions and measures to prevent iCJD are focused mainly on clinical CJD patients, but a potential risk from preclinical cases, for example asymptomatic carriers of CJD-specific mutations of the PRNP, cannot be excluded. These carriers represent a “genetic CJD-risk group” in the general population.
KeywordsCreutzfeldt-Jakob disease E200K Carriers Prevention
The work was supported by a grant from the EC “Protecting the food chain from prions: shaping European priorities through basic and applied research”, PRIORITY, No222887 and by grant from the EU Joint Programme “Neurodegenerative Disease Research” Biomarker based diagnosis of rapid progressive dementias, JPND- DEMTEST, 01ED1201A.
Conflict of interest
Authors declare no conflict of interest.