Case Report: Genetic Creutzfeldt–Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia

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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Bibliographic Details
Main Authors: Xue Lin, Yichen Xu, Zhen Zhen, Kang Xiao, Xu Chen, Jigang Yang, Hongzhi Guan, Qi Shi, Xiaoping Dong, Jiawei Wang, Yanjun Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Neurology
Subjects:
genetic Creutzfeldt-Jakob disease
prion
PRNP
G114V mutation
one octapeptide repeat deletions
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.888309/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.888309/full

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