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Cureus
December 2024
Medicine, King Saud University Medical School, Riyadh, SAU.
Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and incurable neurodegenerative disorder caused by prions. It is invariably fatal and classified under transmissible spongiform encephalopathies. This case report presents a 66-year-old Saudi female who was admitted to the neurology department due to a rapidly advancing cognitive decline.
View Article and Find Full Text PDFNeurobiol Dis
January 2025
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China; National Clinical Research Center for Geriatric Disorders, Xuanwu Hospital, Capital Medical University, Beijing, China. Electronic address:
Background: Investigating brain metabolic networks is crucial for understanding the pathogenesis and functional alterations in Creutzfeldt-Jakob disease (CJD). However, studies on presymptomatic individuals remain limited. This study aimed to examine metabolic network topology reconfiguration in asymptomatic carriers of the PRNP G114V mutation.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
J Clin Med
January 2025
Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY 10065, USA.
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, and transmissible neurodegenerative disorder caused by prion proteins. Handling specimens from individuals with suspected or confirmed cases presents a safety challenge to hospital workers including clinical laboratory staff. As no national guidelines exist, the clinical pathology laboratory must establish protocols for handling these specimens to ensure sufficient protective measures.
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