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Cholesterol Variability and Dementia Risk: Finding Meaning in the Ups and Downs.
Neurology
February 2025
Kaiser Permanente Division of Research, Pleasanton, CA.
Pain and Headache in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.
Curr Pain Headache Rep
January 2025
Department of Neurology, Weill-Cornell-Medicine, 1305 York Avenue, New York City, NYC, 10021, USA.
Purpose Of Review: The purpose of this review is to evaluate the current knowledge and recent findings on different pain and headache presentations associated with Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) disease.
Recent Findings: MOGAD is an inflammatory autoimmune disease affecting mostly the central nervous system, presenting with optic neuritis, transverse myelitis and other forms of inflammatory demyelination. Pain and headache in MOGAD have been recognized more recently and acute and chronic forms of pain can occur in both the adult and pediatric population.
Prioritizing questions and topics for the development of guidelines and consensus-based recommendations supported by ILAE: A scoping review and proposal of prioritization criteria.
Epilepsia
January 2025
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Clinical practice guidelines (CPGs) and consensus-based recommendations (CBRs) require considerable effort, collaboration, and time-all within the constraints of finite resources. Professional societies, such as the International League Against Epilepsy (ILAE), must prioritize what topics and questions to address. Implementing evidence-based care remains a crucial challenge in clinical practice.
View Article and Find Full Text PDFDynamic Video Assessment of Axial Postural Abnormalities in Parkinson's Disease: A Pilot Study.
Mov Disord Clin Pract
January 2025
Department of Computer Science, University of Verona, Verona, Italy.
Background: Axial postural abnormalities (APAs) are frequent and disabling axial symptoms of Parkinson's disease (PD). Image-based measurement is considered the gold standard but may not accurately detect the true severity of APAs because these symptoms can appear or get worse under dynamic conditions.
Objective: The aim was to evaluate quantitative changes in APAs degree during prolonged standing and walking in both single- and dual-task conditions (motor + cognitive).
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.
Epilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
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