HLA study of Japanese patients with Crutzfeldt‐Jakob disease: Significant association with HLA‐DQw3

Abstract

To demonstrate genetic susceptibility to Creutzfeldt-Jakob disease (CJD), 10 Japanese patients with pathologically proved CJD and 6 patients with clinically definite CJD were tissue typed for 48 class I and 14 class II human leukocyte antigen (HLA) specificities. The patients were scattered throughout Japan and there were no consanguineous relationships. Among 62 HLA specificities, HLA-DRw53 and DQw3 were found in all pathologically proved CJD cases. When the frequencies of the HLA antigens in the 16 CJD cases were compared to those of normal Japanese, a highly significant (p less than 0.005) increase was found for HLA-DQw3 in the CJD group. The present findings provide evidence for genetic control of susceptibility to CJD in humans.

The Case for Involvement of Spiroplasma in the Pathogenesis of Transmissible Spongiform Encephalopathies

“…As suspected, all of the CWD spiroplasma strains are identical and seem to be derived from one source. There is evidence that human leukocyte antigen may be a factor in susceptibility to TSE (88,89), and animals with different major histocompatibility complex types should be investigated in relation to susceptibility to spiroplasma infection and prion amyloid deposition. We should follow up on these interesting findings and determine if we can use molecular studies to define and separate the many disparate strains of the scrapie agent, which are thought to number 25 or more (86).…”