A 28-year-old woman with prior neurosurgery involving the placement of a cadaveric dural graft developed a rapidly progressive neurodegenerative disorder with prominent cerebellar dysfunction that was proven at autopsy to be Creutzfeldt-Jakob disease. She represents the second American to develop Creutzfeldt-Jakob disease in association with a dural graft. The unusual features of the case include the patient's initial clinical presentation with cerebellar ataxia in the absence of dementia, the widespread presence of kuru-type amyloid plaques on a histological examination of the brain, the development of clinical symptoms during pregnancy, and the subsequent delivery of a child who remains healthy at the age of 3 years.
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http://dx.doi.org/10.1227/00006123-199404000-00026 | DOI Listing |
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 PDFAlzheimers Dement
December 2024
Peking University, Beijing, Beijing, China.
Background: Prion diseases are a group of neurodegenerative diseases associated with prion protein. The disease can be caused by mutations in the PRNP gene, the gene that encodes prion protein. An octapeptide repeat on the N-terminus of prion protein plays an important role in normal intercellular function of prion protein.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Neurological Institute of Thailand, Ratchathewi, Bangkok, Thailand.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is one of common causes of rapidly progressive dementia worldwide. However, because of the variety of its clinical presentations that mimic other cognitive disorders, the certain diagnosis in public hospitals is still limited. Therefore, this study provides more information about disease manifestations and clinical courses of probable sCJD cases in Thailand.
View Article and Find Full Text PDFBackground: Patients with the precipitous onset of cognitive symptoms (i.e., suspected rapid progressive dementia [RPD]) may continue to decline (true RPD) or may stabilize or improve (non-RPD).
View Article and Find Full Text PDFJ Mol Graph Model
December 2024
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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