Familial E200K Creutzfeldt-Jakob disease with onset of intractable insomnia:a case report and literature review
Hong Fan
Zhao Xin
Zhu Xinli
Wang Ying
Jing Dongqing
Liu Junling
Abstract：Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder of the central nervous system. According to the cause, it can be divided into sporadic CJD (sCJD), familial CJD (fCJD), and iatrogenic CJD. sCJD accounts for 85% to 90% [1-2], while fCJD accounts for only 5% to 15% [3-4]. The early clinical manifestations of CJD are highly heterogeneous and often misdiagnosed. This article reports a patient who initially presented with refractory insomnia, and during the course of treatment, was diagnosed with anxiety-depressive state, heavy metal poisoning, autoimmune encephalitis, mitochondrial encephalomyopathy, and neuronal intranuclear inclusion disease, among others. Finally, the diagnosis of fCJD was confirmed by genetic testing. The patient's medical history, clinical manifestations, auxiliary examinations, and gene typing are reported and reviewed in this paper to enhance clinical awareness of fCJD. This study has been approved by the Ethics Committee of the Affiliated Hospital of Shandong University of Traditional Chinese Medicine (Ethical Approval Number: wyfy-2024-qt-038), and the patient's family has signed an informed consent form.
Keywords：InsomniaCognitive impairmentAbnormal behaviorFamilial Creutzfeldt-Jakob diseasePRNP gene
Publication Date：2025-09-20
Online Publishing Date：2025-09-23(First online date of this platform, not the publication date of the document)
Pages：5( 680-684 )