J Korean Neurol Assoc.  2025 Feb;43(1):12-20. 10.17340/jkna.2024.0063.

Characteristics of Genetic Creutzfeldt-Jakob Disease in Korea: 2017-2023

• Shin I
• Kim J
• Roh S
• Gill B
• Yang Y

• KMID: 2564403
• DOI: http://doi.org/10.17340/jkna.2024.0063

Abstract

Background
Creutzfeldt-Jakob disease (CJD) is a rare and a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein. The disease develops in very different ways, such as sporadic, genetic, and iatrogenic. We aim to identify the incidence of CJD genotypes registered in the statutory infectious disease surveillance system from 2017 to 2023 and analyze the types and characteristics of domestic pathogenic CJD genotypes to serve as a basis for preventing transmission.
Methods
We analyzed the characteristics of hereditary CDJ among subjects reported through the Korean Centers for Disease Control and Prevention\'s statutory infectious disease surveillance system from 2017 to 2023.
Results
In total, six pathogenic genotypes were identified in Korean patients, with P102L belonging to Gerstmann-Sträussler-Scheinker syndrome being the most common (16, 30.2%), followed by V180I (13, 24.5%), M232R (10, 18.9%), and E200K (seven, 18.9%), which are highly prevalent in Asia, and D178N (six, 11.3%) and V203I (one, 1.9%), which belong to fatal familial insomnia.
Conclusions
The significance of this study lies in the identification of P102L as the predominant genotype observed among individuals in their 30s and 40s in Korea. Moreover, it highlights that the occurrence of visual symptoms at an early stage is more prevalent in this age group compared to individuals over 50. Therefore, if a young individual reports a subjective decline in visual acuity not adequately accounted for by structural abnormalities of the eye, it becomes imperative to confirm the presence of CJD before undergoing ophthalmic procedures (such as corneal or retinal surgery), as these procedures involve high-risk organs for CJD transmission.

Keyword

Creutzfeldt-Jakob syndrome; Genotype; Prion proteins; Mutation