Data underlying the publication: Genetic Creutzfeldt-Jakob disease shows Fatal Family Insomnia phenotype

doi: 10.4121/14897106.v1
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doi: 10.4121/14897106
Datacite citation style:
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
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Dataset
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geolocation
China
lat (N): 52.373
lon (E): 4.893
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time coverage
2020-2021
licence
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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.

history
  • 2021-07-05 first online, published, posted
publisher
4TU.ResearchData
format
word, mp4, jpj
funding
  • 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
organizations
The Second Affiliated Hospital of Hainan Medical University

DATA

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