Evidence map›Paper›PMID 42125878›Full record

ArticleAnnals of clinical and translational neurology2026

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt-Jakob Disease With T188K Mutation.

Chun-Jie Li, Dong-Lin Liang, Li-Ping Gao, Wei-Wei Zhang, Wei Zhou, A Ruhan, Bing Xu, Run-Dong Cao, Kang Xiao, Cao Chen and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Chun-Jie LiNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Dong-Lin LiangNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Li-Ping GaoNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Wei-Wei ZhangNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Wei ZhouNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
A RuhanNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Bing XuNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Run-Dong CaoNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Kang XiaoNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Cao ChenNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Qi ShiNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.ORCID https://orcid.org/0009-0002-7606-4644
Xiao-Ping DongNational Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.

Funding

the Chinese National Natural Science Foundation Grants 82341035the Foundation of National Key Laboratory of Intelligent Tracking and Forecasting for infectious Disease 2024NITFID804
6 · The paper itself

Abstract

objectiveTo characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt-Jakob disease with T188K variant (T188K-gCJD), the most common subtype of genetic prion diseases (gPrDs) in China.

methodsIn this nationwide retrospective study, data from 98 genetically confirmed T188K-gCJD patients were collected via Chinese National Surveillance for CJD (CNS-CJD) from 2007 to 2025. The features of demography, clinical manifestations, MRI and EEG, cerebrospinal fluid (CSF) tests (14-3-3, CaM, RT-QuIC) and PRNP sequencing were comprehensively analyzed.

resultsThe onset ages of 98 Chinese T188K-gCJD patients ranged from 40 to 80 years old (y) (median: 61 years), with a male-to-female ratio of 1:0.85. The geographic distribution of T188K-gCJD patients showed a significant north-south disparity (cumulative incidence: 0.1217 vs. 0.0534 per million, p = 0.0227). Clinical phenotype of T188K-gCJD resembled closely that of sporadic CJD (sCJD), but positive rates of periodic sharp wave complexes (PSWC) on EEG (29.9%) and CSF RT-QuIC (53.2%) were relatively low. Majority of the patients progressed rapidly with the median survival of 5.0 months, which was associated only with a shorter onset-to-report interval.

interpretationThe phenotype of T188K-gCJD is extremely similar to that of sCJD, underscoring the critical importance of PRNP sequencing for accurate diagnosis.

Indexed as

genetic Creutzfeldt‐Jakob diseasephenotypic featureprionT188K

Identifiers

PMID42125878
PMCPMC13394842

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.