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...

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Detalles Bibliográficos
Autores principales: Lin, Xue, Xu, Yichen, Zhen, Zhen, Xiao, Kang, Chen, Xu, Yang, Jigang, Guan, Hongzhi, Shi, Qi, Dong, Xiaoping, Wang, Jiawei, Guo, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
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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