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

dataset
posted on 05.07.2021, 10:55 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.

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

History

Publisher

4TU.ResearchData

Time coverage

2020-2021

Geolocation

China

Geolocation Longitude

4.893

Geolocation Latitude

52.373

Format

word, mp4, jpj

Organizations

The Second Affiliated Hospital of Hainan Medical University