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| http://dx.doi.org/10.1136/jnnp.72.3.285 | DOI Listing |
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Alzheimers Dement
December 2024
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Background: Plasma p-tau217 shows high promise as an AD biomarker. In some mass spectrometry (MS) studies, the ratio between p-tau217 and the corresponding non-phospho peptide tau212-221 (p-tau217/T217) was suggested to increase accuracy to detect AD-type tau phosphorylation. However, disorders with rapid neurodegeneration or acute neuronal injury, are known to have increased neurodegeneration biomarkers e.
View Article and Find Full Text PDFFatal 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 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.
View Article and Find Full Text PDFCharacteristics of Creutzfeldt-Jakob disease at Siriraj Hospital, Thailand: Case series and literature review.
Clin Park Relat Disord
November 2024
Department of Neurology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Introduction: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal, neurodegenerative disease classified as prion diseases. There are many subtypes of this disease, but information about clinical presentation and investigation findings in Thailand is scarce.
Objective: To describe the clinical presentation, radiological and electroencephalographic characteristics of CJD encountered at Siriraj hospital in the past 10 years (between January 1, 2006 and December 31, 2015).
Upbeat Nystagmus Associated with the Heidenhain Variant of Creutzfeldt-Jakob Disease.
Neurol India
November 2024
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
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