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An Atypical Case of Creutzfeldt-Jakob Syndrome Presenting with Cacosmia and Amyloid Positivity.
J Alzheimers Dis Rep
July 2024
Department of Clinical Research in Neurology, Center for Neurodegenerative Diseases and the Aging Brain, "Pia Fondazione Cardinale G. Panico", University of Bari 'Aldo Moro', Tricase, Italy.
This report presents a challenging case of Creutzfeldt-Jakob Disease (CJD), a rare and rapidly progressing neurological disorder. The patient exhibited diverse and progressive neuro-psychiatric symptoms, including memory impairment, behavioral changes, and hallucinations associated with cacosmia. The diagnosis of CJD is complicated due to its variable clinical presentation, limited awareness, and the need for tissue pathology confirmation.
View Article and Find Full Text PDFNew Light on Prions: Putative Role of PrP in Pathophysiology of Mood Disorders.
Int J Mol Sci
March 2024
Department of Affective Disorders, Jagiellonian University Medical College, Kopernika 21A, 31-501 Kraków, Poland.
Mood disorders are highly prevalent and heterogenous mental illnesses with devastating rates of mortality and treatment resistance. The molecular basis of those conditions involves complex interplay between genetic and environmental factors. Currently, there are no objective procedures for diagnosis, prognosis and personalization of patients' treatment.
View Article and Find Full Text PDFTwo Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in gene.
Prion
December 2023
National Key-Laboratory of Intelligent Tracking and Forecasting for Infectious Disease, NHC Key Laboratory of Medical Virology and Viral Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Worldwide, 10-15% human prion disease are genetic and inherited, due to the special mutations or insertions in gene. Herein, we reported two Chinese patients with rapidly progressive dementia who were referred to the national Creutzfeldt-Jacob disease (CJD) surveillance as suspected CJD. Those two patients displayed sporadic CJD (sCJD)-like clinical phenotype, e.
View Article and Find Full Text PDFBilateral tonic-clonic seizure and focal cortical hyperexcitability in familial Creutzfeldt-Jakob disease with E200K mutation of the prion protein.
Epileptic Disord
June 2023
Department of Neurology, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Convulsive epileptic seizures are rare in Creutzfeldt-Jakob disease (CJD), and their clinical and EEG features have not been reported in detail. We describe a case of familial CJD with an E200K mutation of the prion protein who presented with bilateral tonic-clonic seizures (BTCS) during long-term video-EEG monitoring. Semiologically, BTCS showed focal clinical signs such as head turning and eye deviation to the left.
View Article and Find Full Text PDFPeriodic sharp wave complexes identify a distinctive phenotype in Creutzfeldt-Jacob disease.
Clin Neurophysiol
November 2022
Epilepsy Centre, Policlinico Tor Vergata, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy. Electronic address:
Objective: The aim of our study was to evaluate the diagnostic and prognostic value of Electroencephalogram (EEG), brain Magnetic Resonance Imaging (MRI) and cerebrospinal fluid features, currently representing Creutzfeldt-Jacob Disease (CJD) diagnostic criteria.
Methods: A retrospective study on rapidly progressive dementia patients admitted at the Neurology Clinic of the University of Rome "Tor Vergata" between 2015 and 2020 was conducted. We evaluated clinical, EEG, cerebrospinal fluid and neuroradiological findings.
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