Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene
ABSTRACTWorldwide, 10–15% human prion disease are genetic and inherited, due to the special mutations or insertions in PRNP gene. Herein, we reported two Chinese patients with rapidly progressive dementia who were referred to the national Creutzfeldt–Jacob disease (CJD) surveillance as suspected CJD...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | Prion |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/19336896.2023.2276921 |
| _version_ | 1827620701123641344 |
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| author | Dong-Lin Liang Qi Shi Kang Xiao Ruhan A Wei Zhou Xiao-Ping Dong |
| author_facet | Dong-Lin Liang Qi Shi Kang Xiao Ruhan A Wei Zhou Xiao-Ping Dong |
| author_sort | Dong-Lin Liang |
| collection | DOAJ |
| description | ABSTRACTWorldwide, 10–15% human prion disease are genetic and inherited, due to the special mutations or insertions in PRNP gene. Herein, we reported two Chinese patients with rapidly progressive dementia who were referred to the national Creutzfeldt–Jacob disease (CJD) surveillance as suspected CJD. Those two patients displayed sporadic CJD (sCJD)-like clinical phenotype, e.g. rapidly progressive dementia, visional and mental problems, sCJD-associated abnormalities in MRI. A missense mutation was identified in one PRNP allele of these two patients, resulting in a change from serine to asparagine at codon 97 (S97N). RT-QuIC of the cerebrospinal fluid samples from those two cases were positive. It indicates that they are very likely to be prion disease. |
| first_indexed | 2024-03-09T10:51:42Z |
| format | Article |
| id | doaj.art-b0f645726bea468483c0ed422258f8b6 |
| institution | Directory Open Access Journal |
| issn | 1933-6896 1933-690X |
| language | English |
| last_indexed | 2024-03-09T10:51:42Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Prion |
| spelling | doaj.art-b0f645726bea468483c0ed422258f8b62023-12-01T06:16:01ZengTaylor & Francis GroupPrion1933-68961933-690X2023-12-0117114114410.1080/19336896.2023.2276921Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP geneDong-Lin Liang0Qi Shi1Kang Xiao2Ruhan A3Wei Zhou4Xiao-Ping Dong5National 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, ChinaNational 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, ChinaNational 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, ChinaNational 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, ChinaNational 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, ChinaNational 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, ChinaABSTRACTWorldwide, 10–15% human prion disease are genetic and inherited, due to the special mutations or insertions in PRNP gene. Herein, we reported two Chinese patients with rapidly progressive dementia who were referred to the national Creutzfeldt–Jacob disease (CJD) surveillance as suspected CJD. Those two patients displayed sporadic CJD (sCJD)-like clinical phenotype, e.g. rapidly progressive dementia, visional and mental problems, sCJD-associated abnormalities in MRI. A missense mutation was identified in one PRNP allele of these two patients, resulting in a change from serine to asparagine at codon 97 (S97N). RT-QuIC of the cerebrospinal fluid samples from those two cases were positive. It indicates that they are very likely to be prion disease.https://www.tandfonline.com/doi/10.1080/19336896.2023.2276921CJDprionPRNPS97N mutation |
| spellingShingle | Dong-Lin Liang Qi Shi Kang Xiao Ruhan A Wei Zhou Xiao-Ping Dong Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene Prion CJD prion PRNP S97N mutation |
| title | Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene |
| title_full | Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene |
| title_fullStr | Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene |
| title_full_unstemmed | Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene |
| title_short | Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene |
| title_sort | two chinese patients of sporadic creutzfeldt jacob disease with a s97n mutation in prnp gene |
| topic | CJD prion PRNP S97N mutation |
| url | https://www.tandfonline.com/doi/10.1080/19336896.2023.2276921 |
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