The doi above is for this specific version of this dataset, which is currently the latest. Newer versions may be published in the future. For a link that will always point to the latest version, please use
doi: 10.4121/14897106

CHEN, BIN; Zhang, Shan; Xiao, Ying; Wu, Yingman; Tang, Weiting et. al. (2021): Data underlying the publication: Genetic Creutzfeldt-Jakob disease shows Fatal Family Insomnia phenotype. Version 1. 4TU.ResearchData. dataset. https://doi.org/10.4121/14897106.v1

Dataset

• Clinical Health (organs, Diseases and Abnormal Conditions)

Fatal Family Insomnia, genetic Creutzfeld-Jakob disease, prion diseases, sleep disorder, Wernicke-Korsakoff syndrome

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2020-2021

CC0

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by BIN CHEN , Shan Zhang , Ying Xiao , Yingman Wu , Weiting Tang , Limin Yan , YONG YOU

We report a case of genetic Creutzfeldt-Jakob disease (gCJD). The 51-year-old male complained of sleep disorder and imbalance who had visited five different hospitals before diagnosed. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk, and memory disturbances. The disturbances increased during the course of the disease, which led to the death of the patient 18 months after the appearance of the signs. Although the patient show negative in brain magnetic resonance imaging (MRI) and 14-3-3 protein of cerebrospinal fluid (CSF), he was finally diagnosed with gCJD disease by the human prion protein (PRNP) gene mutations.

• 2021-07-05 first online, published, posted

4TU.ResearchData

word, mp4, jpj

• the Key Project of Education Department of Hainan Province under Grant number Hnky2020ZD-17
• Youth Science and Technology Talents Academic Innovation Project of Hainan Association for Science and Technology under Grant number QCXM201813

The Second Affiliated Hospital of Hainan Medical University