Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Creutzfeldt-Jakob Disease, familial Form (CJD) [A81.0]

OMIM numbers: 123400, 176640 (PRNP)

Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh,
Dr. rer. nat. Christoph Marschall

Scientific Background

Creutzfeldt-Jakob disease is a rare, neurodegenerative, spongiform encephalopathy arising from a subacute infection by a pathogenic, sterically changed prion protein (PrP). The pathogenic conformational change of PrP may be caused by infection or mutations in the encoding gene PRNP. The disease first manifests between the 3rd to 8th life decade; the average age of onset is 61.5 years. The majority of all patients die within one year after the onset.

Creutzfeldt-Jakob Disease has a global incidence of approximately 1 in 1,000,000. The familial form of CJD occurs comparatively frequently in Chileans and Libyan Jews (incidence 1 in 20,000). The proportion of familial CJD in Jews of Libyan decent is approximately 40-50%. About 10% of all cases follow an autosomal dominant pattern of inheritance. A point mutation in the PRNP gene (E200K) that is considered to cause the disease has been identified in over 70% of the familial CJD cases examined worldwide. Moreover, several genetic variants which seem to be associated with the sporadic form of CJD (sCJD) were more recently detected in the regulatory regions of the PRNP gene. Furthermore, a variant form of CJD (vCJD), which is apparently transmitted and therefore acquired, was described in association with BSE in cattle.