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Creutzfeldt-Jakob Disease With Double Mutations at Codon 180 and Codon 232 of .
J Clin Neurol
January 2025
Department of Neurology, Ewha Womans University Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
Fatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.
Sleep Med
December 2024
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, Henan Province, China. Electronic address:
Fatal familial insomnia (FFI) is a rare autosomal dominant neurodegenerative disorder characterized by rapidly progressive dementia, severe sleep disturbances, and autonomic dysfunction. The clinical manifestations of FFI can exhibit substantial variations, making it crucial to rule out other conditions, such as autoimmune encephalitis and Creutzfeldt-Jakob disease, during early diagnosis. In this study, we describe the case of a 58-year-old man who experienced persistent insomnia, autonomic symptoms, gait instability, and rapidly progressive dementia.
View Article and Find Full Text PDFDiagnostic challenge of sporadic Creutzfeldt-Jakob disease revealed by a psychiatric presentation.
Psychogeriatrics
January 2025
Department of Internal Medicine, Centre Hospitalier Victor Dupouy, Argenteuil, France.
When patients with Creutzfeldt-Jakob disease are misdiagnosed as having nonconvulsive status epilepticus.
Epilepsia
January 2025
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.
Contemporary studies report nonconvulsive status epilepticus (NCSE) in Creutzfeldt-Jakob disease (CJD), based on benzodiazepine (BZP)-responsive epileptiform discharges on the electroencephalogram (EEG), with the following false syllogism: (1) intravenous (IV) administration of BZPs usually suppress ictal activity in NCSE; (2) in CJD, periodic sharp wave complexes (PSWCs) are suppressed by IV BZPs; (3) therefore, these patients have NCSE. This is a simplistic and invalid conclusion, because authors of 20th-century science reports have clearly shown that IV BZPs, short-acting barbiturates, and drugs with no antiseizure effects, such as chloral hydrate and IV naloxone, suppress PSWCs, but patients fall asleep with no clinical improvement. In contrast, IV methylphenidate transiently improves both the EEG and clinical states.
View Article and Find Full Text PDFStructural characterization of codon 129 polymorphism in prion peptide segments (PrP127-132) using the Markov State Models.
J Mol Graph Model
March 2025
Department of Chemistry, Faculty of Science and Technology, University of Nairobi, P.O. Box 30197-00100, Nairobi, Kenya.
The human prion protein gene (PRNP) consists of two common alleles that encode either methionine or valine residues at codon 129. Polymorphism at codon 129 of the prion protein (PRNP) gene is closely associated with genetic variations and susceptibility to specific variants of prion diseases. The presence of these different alleles, known as the PRNP codon 129 polymorphism, plays a significant role in disease susceptibility and progression.
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