Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia
Genetic Creutzfeldt–Jakob disease (gCJD) characterized by mutations in the prion protein (PrP) gene (PRNP) contributes to approximately 10–15% of the overall human prion diseases. Here, we report a rare mutation in the PRNP gene in a Han-Chinese family. A 36-year-old man initiated with anxiety and d...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-06-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.888309/full |
| _version_ | 1818550003253116928 |
|---|---|
| author | Xue Lin Xue Lin Yichen Xu Zhen Zhen Zhen Zhen Kang Xiao Xu Chen Jigang Yang Hongzhi Guan Qi Shi Xiaoping Dong Jiawei Wang Yanjun Guo |
| author_facet | Xue Lin Xue Lin Yichen Xu Zhen Zhen Zhen Zhen Kang Xiao Xu Chen Jigang Yang Hongzhi Guan Qi Shi Xiaoping Dong Jiawei Wang Yanjun Guo |
| author_sort | Xue Lin |
| collection | DOAJ |
| description | Genetic Creutzfeldt–Jakob disease (gCJD) characterized by mutations in the prion protein (PrP) gene (PRNP) contributes to approximately 10–15% of the overall human prion diseases. Here, we report a rare mutation in the PRNP gene in a Han-Chinese family. A 36-year-old man initiated with anxiety and depression followed by progressive dementia, cogwheel-like rigidity combined with tremors, and he was diagnosed with frontotemporal lobar dementia in the first 2 years. The disease progression was relatively slow, and the patient developed into akinetic mutism in 4 years. To characterize the disease, following the pedigree studies, neuropsychological examination, neuroimaging studies, real-time quaking-induced conversion (RT-QuIC) examination, and so on were conducted. We eventually identified a rare mutation of G114V combined with one octapeptide repeats deletion (1-ORPD) in the PrP in the patient by DNA sequencing. In addition, the same mutation and deletion were subsequently identified in the patient's mother without any syndromes. His maternal grandmother had a late onset of the disease in her 60s. Given that 1-OPRD has never been reported in human prion disease before, our first report that both G114V mutation and 1-OPRD appear in the family would forward our understanding of the etiological mechanisms of the gCJD. |
| first_indexed | 2024-12-12T08:40:39Z |
| format | Article |
| id | doaj.art-5ffbabd5119848ff8fefdc625824acd9 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-12T08:40:39Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-5ffbabd5119848ff8fefdc625824acd92022-12-22T00:30:48ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-06-011310.3389/fneur.2022.888309888309Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal DementiaXue Lin0Xue Lin1Yichen Xu2Zhen Zhen3Zhen Zhen4Kang Xiao5Xu Chen6Jigang Yang7Hongzhi Guan8Qi Shi9Xiaoping Dong10Jiawei Wang11Yanjun Guo12Department of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurology, Beijing Puren Hospital, Beijing, ChinaDepartment of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurology, People's Hospital of Beijing Daxing District, Beijing, ChinaState Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, ChinaDepartment of Neurosurgery, Beijing Friendship Hospital, Capital Medical University, Beijing, ChinaDepartment of Nuclear Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, ChinaState Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, ChinaState Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, ChinaDepartment of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, ChinaDepartment of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, ChinaGenetic Creutzfeldt–Jakob disease (gCJD) characterized by mutations in the prion protein (PrP) gene (PRNP) contributes to approximately 10–15% of the overall human prion diseases. Here, we report a rare mutation in the PRNP gene in a Han-Chinese family. A 36-year-old man initiated with anxiety and depression followed by progressive dementia, cogwheel-like rigidity combined with tremors, and he was diagnosed with frontotemporal lobar dementia in the first 2 years. The disease progression was relatively slow, and the patient developed into akinetic mutism in 4 years. To characterize the disease, following the pedigree studies, neuropsychological examination, neuroimaging studies, real-time quaking-induced conversion (RT-QuIC) examination, and so on were conducted. We eventually identified a rare mutation of G114V combined with one octapeptide repeats deletion (1-ORPD) in the PrP in the patient by DNA sequencing. In addition, the same mutation and deletion were subsequently identified in the patient's mother without any syndromes. His maternal grandmother had a late onset of the disease in her 60s. Given that 1-OPRD has never been reported in human prion disease before, our first report that both G114V mutation and 1-OPRD appear in the family would forward our understanding of the etiological mechanisms of the gCJD.https://www.frontiersin.org/articles/10.3389/fneur.2022.888309/fullgenetic Creutzfeldt-Jakob diseaseprionPRNPG114V mutationone octapeptide repeat deletions |
| spellingShingle | Xue Lin Xue Lin Yichen Xu Zhen Zhen Zhen Zhen Kang Xiao Xu Chen Jigang Yang Hongzhi Guan Qi Shi Xiaoping Dong Jiawei Wang Yanjun Guo Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia Frontiers in Neurology genetic Creutzfeldt-Jakob disease prion PRNP G114V mutation one octapeptide repeat deletions |
| title | Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
| title_full | Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
| title_fullStr | Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
| title_full_unstemmed | Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
| title_short | Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
| title_sort | case report genetic creutzfeldt jakob disease with a g114v mutation and one octapeptide repeat deletion as a mimic of frontotemporal dementia |
| topic | genetic Creutzfeldt-Jakob disease prion PRNP G114V mutation one octapeptide repeat deletions |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.888309/full |
| work_keys_str_mv | AT xuelin casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT xuelin casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT yichenxu casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT zhenzhen casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT zhenzhen casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT kangxiao casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT xuchen casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT jigangyang casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT hongzhiguan casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT qishi casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT xiaopingdong casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT jiaweiwang casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia AT yanjunguo casereportgeneticcreutzfeldtjakobdiseasewithag114vmutationandoneoctapeptiderepeatdeletionasamimicoffrontotemporaldementia |