{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:21:12Z","timestamp":1791249672649,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt\u2010Jakob disease with T188K variant (T188K\u2010gCJD), the most common subtype of genetic prion diseases (gPrDs) in China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this nationwide retrospective study, data from 98 genetically confirmed T188K\u2010gCJD patients were collected via Chinese National Surveillance for CJD (CNS\u2010CJD) from 2007 to 2025. The features of demography, clinical manifestations, MRI and EEG, cerebrospinal fluid (CSF) tests (14\u20133\u20103, CaM, RT\u2010QuIC) and\n                      <jats:italic>PRNP<\/jats:italic>\n                      sequencing were comprehensively analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The onset ages of 98 Chinese T188K\u2010gCJD patients ranged from 40 to 80\u2009years old (y) (median: 61\u2009years), with a male\u2010to\u2010female ratio of 1:0.85. The geographic distribution of T188K\u2010gCJD patients showed a significant north\u2013south disparity (cumulative incidence: 0.1217 vs. 0.0534 per million,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0227). Clinical phenotype of T188K\u2010gCJD resembled closely that of sporadic CJD (sCJD), but positive rates of periodic sharp wave complexes (PSWC) on EEG (29.9%) and CSF RT\u2010QuIC (53.2%) were relatively low. Majority of the patients progressed rapidly with the median survival of 5.0\u2009months, which was associated only with a shorter onset\u2010to\u2010report interval.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      The phenotype of T188K\u2010gCJD is extremely similar to that of sCJD, underscoring the critical importance of\n                      <jats:italic>PRNP<\/jats:italic>\n                      sequencing for accurate diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70425","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:55:32Z","timestamp":1778666132000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt\u2010Jakob Disease With\n                    <scp>T188K<\/scp>\n                    Mutation"],"prefix":"10.1002","author":[{"given":"Chun\u2010Jie","family":"Li","sequence":"first","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010Lin","family":"Liang","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010Ping","family":"Gao","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei\u2010Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ruhan","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xu","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Run\u2010Dong","family":"Cao","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang","family":"Xiao","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Ping","family":"Dong","sequence":"additional","affiliation":[{"name":"National Key\u2010Laboratory 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"},{"name":"Shanghai Institute of Infectious Disease and Biosafety  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1687841"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40249-016-0143-8"},{"issue":"33","key":"e_1_2_10_4_1","first-page":"723","article-title":"Characteristics of Different Types of Prion Diseases \u2010 China's Surveillance","volume":"4","author":"Shi 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