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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263511/ https://www.ncbi.nlm.nih.gov/pubmed/35812092 http://dx.doi.org/10.3389/fneur.2022.888309 |
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author | Lin, Xue Xu, Yichen Zhen, Zhen Xiao, Kang Chen, Xu Yang, Jigang Guan, Hongzhi Shi, Qi Dong, Xiaoping Wang, Jiawei Guo, Yanjun |
author_facet | Lin, Xue Xu, Yichen Zhen, Zhen Xiao, Kang Chen, Xu Yang, Jigang Guan, Hongzhi Shi, Qi Dong, Xiaoping Wang, Jiawei Guo, Yanjun |
author_sort | Lin, Xue |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-9263511 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-92635112022-07-09 Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia Lin, Xue Xu, Yichen Zhen, Zhen Xiao, Kang Chen, Xu Yang, Jigang Guan, Hongzhi Shi, Qi Dong, Xiaoping Wang, Jiawei Guo, Yanjun Front Neurol Neurology 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. Frontiers Media S.A. 2022-06-24 /pmc/articles/PMC9263511/ /pubmed/35812092 http://dx.doi.org/10.3389/fneur.2022.888309 Text en Copyright © 2022 Lin, Xu, Zhen, Xiao, Chen, Yang, Guan, Shi, Dong, Wang and Guo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Lin, Xue Xu, Yichen Zhen, Zhen Xiao, Kang Chen, Xu Yang, Jigang Guan, Hongzhi Shi, Qi Dong, Xiaoping Wang, Jiawei Guo, Yanjun Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia |
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 | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263511/ https://www.ncbi.nlm.nih.gov/pubmed/35812092 http://dx.doi.org/10.3389/fneur.2022.888309 |
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