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Associations between structural brain changes and blood neurofilament light chain protein in treatment-resistant schizophrenia.
Aust N Z J Psychiatry
January 2025
Melbourne Neuropsychiatry Centre, Department of Psychiatry, The University of Melbourne, Parkville, VIC, Australia.
Objective: Around 30% of people with schizophrenia are refractory to antipsychotic treatment (treatment-resistant schizophrenia). Abnormal structural neuroimaging findings, in particular volume and thickness reductions, are often described in schizophrenia. Novel biomarkers of active brain pathology such as neurofilament light chain protein are now expected to improve current understanding of psychiatric disorders, including schizophrenia.
View Article and Find Full Text PDFEEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
New York University, New York, NY, USA.
Background: Alzheimer's disease (AD) exhibits considerable phenotypic heterogeneity, suggesting the potential existence of subtypes. AD is under substantial genetic influence, thus identifying systematic variation in genetic risk may provide insights into disease origins. We previously identified a genetic heterogeneity across two levels.
View Article and Find Full Text PDFBackground: There is currently an unmet need for novel accessible biomarkers that capture the complex and heterogenous pathophysiology of Alzheimer's disease (AD). Over the past decade, the systems-based multi-omic approaches employed by the Accelerating Medicines Partnership in AD (AMP-AD) have resulted in the identification of promising peripheral markers of disease heterogeneity. This scientific review will highlight these advances with a particular focus on the consortium's successes in peripheral protein biomarker discovery in cerebrospinal fluid (CSF) and plasma.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Sapienza University of Rome, Rome, Italy.
Background: Parkinson's disease and Huntington's disease are both neurodegenerative conditions involving the basal ganglia area of the brain. Both conditions can cause symptoms that affect movement. Cognitive decline or dementia can also occur in both.
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