Free Testing for Immediate Family Members of Patients with Hereditary 'Creutzfeldt-Jakob Disease'

KDCA Offers Free Genetic Mutation Testing
to Strengthen Early Detection and Surveillance System

The Korea Disease Control and Prevention Agency (KDCA) urged on the 15th for active participation in the genetic mutation testing, which is provided free of charge to families of patients with hereditary Creutzfeldt-Jakob disease (CJD).

CJD, a third-class legally designated infectious disease, is a degenerative neurological disorder caused by the accumulation of prion protein (PrPc), which normally exists, being transformed into an abnormal form (PrPSc) in the central nervous system and lymphoid tissues. It is a highly severe infectious disease characterized by rapidly progressing neurological symptoms such as cognitive impairment, visual disturbances, and gait abnormalities. Depending on the route of infection, it is classified into sporadic CJD, genetic CJD, and iatrogenic CJD.

CJD occurs worldwide at a rate of approximately 1.5 cases per one million people, and in South Korea, about 60 cases (1.2 per one million) occur annually. Among these, hereditary CJD accounts for about 6 to 11 cases per year, representing approximately 13% of all CJD cases. Since March 2023, the KDCA has conducted free testing for families of hereditary CJD patients, with a total of 18 tests performed so far, and pathogenic genotypes were confirmed in 3 cases.

Early diagnosis is important because if there is a hereditary CJD patient in the family, the possibility of additional cases within the family is high. Since March 2023, the KDCA has been providing free testing for direct family members of hereditary CJD patients, and medical expenses are also supported if certain criteria are met (below 140% of the median income among patients with special calculation exceptions).

Direct family members of hereditary CJD patients can inquire at the local public health center of their residence and receive free genetic mutation diagnostic testing services at neurology medical institutions nationwide. The test analyzes the nucleotide sequence of the prion protein gene extracted from nucleic acids in blood samples to confirm the presence or absence of pathogenic mutations (PRNP).