Characteristics of Korean patients with suspected Creutzfeldt-Jakob disease with 14-3-3 protein in cerebrospinal fluid: Preliminary study of the Korean Creutzfeldt-Jakob disease active surveillance program

Abstract

Although Korea had a national surveillance system for Creutzfeldt-Jakob disease (CJD), it was mainly dependent on attending physician's reports. Thus, little prospective data about the epidemiology, characteristics, and final diagnoses of suspected patients were available. We have established a nationwide network for the active surveillance of patients with suspected CJD. When the requested cerebrospinal fluid (CSF) samples tested positive for 14-3-3 protein, we investigated the clinical characteristics of the corresponding patients and followed them until their final diagnoses were confirmed. A total of 218 samples were requested for CSF assays from May 2010 to August 2012, and 106 (48.6%) were positive for 14-3-3 protein. In 89 patients with complete clinical data, 38 (42.7%) were diagnosed with probable CJD and the estimated annual occurrence of CJD was 16.3 persons-per-year. The most common diagnoses of the remainder were central nervous system infection and any-cause encephalopathy. Non-CJD subjects showed worse initial consciousness levels than CJD patients. This preliminary study showed that the number of reported cases of CJD and the true positivity rates of CSF 14-3-3 protein assays were both low in Korea. An active surveillance system is urgently needed to provide the latest nationwide epidemiological data of CJD.

Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

“…In this study, we used only WB to test the level of 14-3-3 protein in the CSF, but the sensitivity was lower than the 82% reported in other countries [15]. Among the 218 sCJD patients reported by the Korean professor Jae-Sung Lin in 2015, only 106 patients were positive for CSF 14-3-3 protein, and the sensitivity was 48.6% [16]. In this regard, we consider that the lower sensitivity of 14-3-3 protein detection in this study may be related to ethnic differences.…”

Sensitivity and specificity evaluation of multiple neurodegenerative proteins for Creutzfeldt-Jakob disease diagnosis using a deep-learning approach

“…We consider the following limitations of the proposed method that may have contributed to this result. First, noise among samples might have been derived from misdiagnosis for cases in which the symptoms of CJD are misinterpreted, since they are similar to those of other neurodegenerative disorders [57,58]. Second, additional combinations with other proteins associated with neurodegenerative disorders such as S-100 should be tested.…”

The importance of ongoing international surveillance for Creutzfeldt–Jakob disease

“…The onset of sCJD is most common between the ages of 60 and 70 years 32 , although cases have been identified across a range of age groups 1 . sCJD has been detected in Europe 1 , 17 , 29 , 30 , 33 , 34 , North America 31 , Central America 35 , South America 36 , 37 , Africa 38 – 40 , Asia 41 – 45 and Australasia 33 , 46 , 47 , and has a global incidence of 1–2 per million, although the reported incidence varies between nations and is influenced by the methods and extent of surveillance performed 2 . Multiple low-income and middle-income countries have reported cases of sCJD 37 – 40 , 43 , 48 , 49 ; however, as surveillance programmes are absent across much of the world, accurate epidemiological assessment is extremely challenging 21 .…”