Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases
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DOI: 10.1093/brain/awab350
Abstract: Abstract Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases… read more here.
Keywords: prion; genetic prion; prion disease; prion diseases ... See more keywords
Age at onset in genetic prion disease and the design of preventive clinical trials
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DOI: 10.1212/wnl.0000000000007745
Abstract: Objective To determine whether preventive trials in genetic prion disease could be designed to follow presymptomatic mutation carriers to onset of disease. Methods We assembled age at onset or death data from 1,094 individuals with… read more here.
Keywords: prion; genetic prion; prion disease; age onset ... See more keywords
Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons
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DOI: 10.26508/lsa.202201530
Abstract: Bauer and colleagues report that among the six neuron types studied, somatostatin neurons have an unexpectedly strong and similar response to two distinct genetic prion diseases before disease onset. Selective neuronal vulnerability is common in… read more here.
Keywords: fatal familial; genetic prion; familial insomnia; somatostatin neurons ... See more keywords
Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients
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DOI: 10.3390/biom9120800
Abstract: The exploration of accurate diagnostic markers for differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous study on cerebrospinal fluid (CSF)-mitochondrial malate dehydrogenase 1 (MDH1) in sporadic Creutzfeldt–Jakob disease (sCJD) patients revealed a… read more here.
Keywords: mdh1; disease; prion disease; genetic prion ... See more keywords