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KMID : 1143420160090480976
Public Health Weekly Report
2016 Volume.9 No. 48 p.976 ~ p.979
Laboratory diagnosis for Creutzfeldt-Jakob Disease (2011-2015)
Kim Su-Yeon

Hyeon Jae-Wook
Lee Yeong-Seon
Abstract
Creutzfeldt-Jakob disease (CJD) is the most representative human prion disease caused by abnormal accumulation of misfolded prion protein. The diagnosis is determined on the basis of the WHO criteria, using the features observed on magnetic resonance imaging and electroencephalogram, and according to the presence of elevated 14-3-3 protein and prion protein gene polymorphisms. First, protein detection and gene polymorphism analysis were performed, and then, clinicians determined the diagnosis as CJD or non-CJD combining epidemiological opinions. We examined 705 CSFs for the detection of 14-3-3 protein and analyzed 452 bloods for the genotyping of prion protein gene for the past five years. Almost all the cases were from the age group of 60?80 years, and the numbers of male and female patients were similar. The 14-3-3 protein was detected in an average of 43.9% of the cases, and the genetic pathogenic factors of inherited CJD were observed in 16 cases. We considered that the active surveillance for at-risk patients and development of alternative specific diagnostic biomarkers were needed to improve and provide an accurate diagnosis for patients in the early stages of the disease.
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