Abstract
Creutzfeldt-Jakob disease (CJD), a relatively uncommon human dementia, is caused
by an unconventional slow infectious agent. Several cases of CJD, clinically or
histopathologically diagnosed, have been reported in Korea. In order to confirm
the diagnosis of CJD and also differential diagnosis of sporadic and familial
types of CJD in Korea, we studied two patients who had symptoms of CJD. The
histopathological and immunohistochemical studies showed spongiform
neurodegeneration and expression of abnormal isoform of prion protein (PrPSc) in
astrocytes. Thus, these two patients were diagnosed CJD. To investigate whether
these patients were sporadic or familial type of CJD, the molecular analyses of
the prion protein gene (PRNP) were done by restriction fragment length
polymorphism (RFLP) and DNA sequencing. In the cases of a healthy Korean and two
CJD patients, no point mutation was detected in the known hot spots (178, 180,
200, 210, and 232) and they exhibited wild type PRNP sequences. We concluded
that both patients have a sporadic type of CJD, but not familial type.