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.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Jeong BH,Ju WK,Huh K,Lee EA,Choi IS,Im JH,Choi EK,Kim YSdoi
10.3346/jkms.1998.13.3.234subject
Has Abstractpub_date
1998-06-01 00:00:00pages
234-40issue
3eissn
1011-8934issn
1598-6357journal_volume
13pub_type
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