TY - DATA
T1 - Data underlying the publication: Genetic Creutzfeldt-Jakob disease shows Fatal Family Insomnia phenotype
PY - 2021/07/05
AU - BIN CHEN
AU - Shan Zhang
AU - Ying Xiao
AU - Yingman Wu
AU - Weiting Tang
AU - Limin Yan
AU - YONG YOU
UR - https://data.4tu.nl/articles/dataset/Data_underlying_the_publication_Genetic_Creutzfeldt-Jakob_disease_shows_Fatal_Family_Insomnia_phenotype/14897106/1
DO - 10.4121/14897106.v1
KW - genetic Creutzfeld-Jakob disease
KW - Fatal Family Insomnia
KW - Wernicke-Korsakoff syndrome
KW - prion diseases
KW - sleep disorder
N2 - <p>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.</p>
ER -