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. 2024 Oct 30;14(21):2424.
doi: 10.3390/diagnostics14212424.

A Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt-Jakob Disease

Toshiaki Nonaka  1 , Ryusuke Ae  2   3 , Koki Kosami  2   3 , Hiroya Tange  1 , Miho Kaneko  1 , Takehiro Nakagaki  1 , Tsuyoshi Hamaguchi  2   4 , Nobuo Sanjo  2   5   6 , Yoshikazu Nakamura  2   3 , Tetsuyuki Kitamoto  2   7 , Yoshiyuki Kuroiwa  2   8 , Kensaku Kasuga  2   9 , Manabu Doyu  2   10 , Fumiaki Tanaka  2   11 , Koji Abe  2   12   13 , Shigeo Murayama  2   14   15 , Ichiro Yabe  2   16 , Hideki Mochizuki  2   17 , Takuya Matsushita  2   18 , Hiroyuki Murai  2   19 , Masashi Aoki  2   20 , Koji Fujita  2   21 , Masafumi Harada  2   22 , Masaki Takao  2   23 , Tadashi Tsukamoto  2   24 , Yasushi Iwasaki  25 , Masahito Yamada  2   5   6 , Hidehiro Mizusawa  2   12 , Katsuya Satoh  2   26   27 , Noriyuki Nishida  1
Affiliations

A Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt-Jakob Disease

Toshiaki Nonaka et al. Diagnostics (Basel). .

Abstract

Background/objectives: Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD. This study aimed to evaluate the sensitivity and specificity of Hermann's criteria compared with those of the WHO criteria in a large cohort of patients suspected of prion disease in Japan.

Methods: In this retrospective cohort study, we examined the new criteria using data of 2004 patients with suspected prion disease registered with the Japanese Prion Disease Surveillance (JPDS) between January 2009 and May 2023. Patients with genetic or acquired prion diseases or incomplete data necessary for the diagnostic criteria were excluded, resulting in 786 eligible cases. The sensitivity and specificity of the WHO and Hermann's criteria were calculated by comparing diagnoses with those made by the JPDS Committee.

Results: Of the 786 included cases, Hermann's criteria helped identify 572 probable cases compared with 448 by the WHO criteria. The sensitivity and specificity of the WHO criteria were 96.4% and 96.6%, respectively. Hermann's criteria demonstrated a sensitivity of 99.3% and a specificity of 95.2%, indicating higher sensitivity but slightly lower specificity. Fifty-five cases were classified as "definite" by both criteria.

Conclusions: The findings suggest that Hermann's criteria could offer improved sensitivity for detecting sCJD, potentially reducing diagnostic oversight. However, caution is advised in clinical practice to avoid misdiagnosis, particularly in treatable neurological diseases, by ensuring thorough exclusion of other potential conditions.

Keywords: biomarker; diagnostic criteria; magnetic resonance imaging; prion disease; real-time quaking-induced conversion; sporadic Creutzfeldt–Jakob disease.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Diagnostic flowchart of the World Health Organization (WHO) and Hermann’s criteria for sporadic Creutzfeldt–Jakob disease (CJD). EEG, electroencephalography; CSF, cerebrospinal fluid; MRI, magnetic resonance imaging; DWI, diffusion-weighted imaging; RT-QuIC, real-time quaking-induced conversion.
Figure 2
Figure 2
Distribution of period from onset to probable diagnosis using the WHO criteria, Hermann’s criteria, and only Hermann’s criteria.
See this image and copyright information in PMC

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