We assessed the role of the APOE genotype and prion protein polymorphism at codon 129 in predicting the clinical duration of 92 neuropathologically confirmed sporadic Alzheimer's disease patients. Analyses of survival showed that the absence of the APOE epsilon 4 allele in heterozygous codon 129 PRNP carriers is a negative predictor of survival. When this subgroup of patients was stratified by sex, the effect of APOE was observed in women, but not in men.
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Structural characterization of codon 129 polymorphism in prion peptide segments (PrP127-132) using the Markov State Models.
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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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The UK National CJD Research and Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh, EH16 4TG, UK.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal prion disease with significant public health implications. Survival is heterogenous, posing challenges for prognostication and care planning. We developed a survival model using diagnostic data from comprehensive UK sCJD surveillance.
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National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom; Academic Department of Neuropathology, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom.
Human prion diseases are a rare group of transmissible neurodegenerative conditions which are classified according to their aetiology as sporadic, genetic or acquired forms. Creutzfeldt-Jakob disease (CJD) is the most common form of human prion disease, with the sporadic form accounting for ∼85% of all reported cases. While advances have been made in the development of clinical tools and biomarkers in the diagnosis of prion disease, allowing greater diagnostic certainty for surveillance purposes, definitive diagnosis requires neuropathological examination of the brain at postmortem.
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Department of Biomedical Engineering and Sciences, School of Mechanical and Manufacturing Engineering, National University of Sciences and Technology, Islamabad, Pakistan.
Rapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples ( = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction.
View Article and Find Full Text PDFA case report of an individual with Creutzfeldt-Jakob disease characterized by prolonged isolated thalamic lesions and rare MM2-cortical-type pathology.
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Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Background: Diffusion-weighted magnetic resonance imaging (DWI) is essential for diagnosing Creutzfeldt-Jakob disease (CJD). Thalamic lesions are rarely detected by DWI in sporadic CJD (sCJD) cases with methionine homozygosity at polymorphic codon 129 (129MM) of the prion protein (PrP) gene. Here, we describe an unusual sCJD case, characterized by prolonged isolated thalamic diffusion hyperintensities and atypical brain pathology, in combination with the 129MM genotype.
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