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| http://dx.doi.org/10.1155/2019/8241951 | DOI Listing |
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Late-onset CSF1R-related Disorder: A Case Report.
Cogn Behav Neurol
January 2025
Department of TCM Internal Medicine, Ganzhou Nankang Hospital of Traditional Chinese Medicine, Ganzhou, China.
CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis.
View Article and Find Full Text PDFMotor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen.
Brain Dev
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China. Electronic address:
Background: Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.
Methods: Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.
Neglect symptoms are related to a prediction-hypersensitivity in ipsilesional space.
Cortex
December 2024
Cognitive Neuroscience, Institute of Neuroscience & Medicine (INM-3), Forschungszentrum Jülich, Jülich, Germany; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
The precise cognitive mechanisms underlying spatial neglect are not fully understood. Recent studies have provided the first evidence for aberrant behavioral and electrophysiological prediction and prediction error responses in patients with neglect, but also in right-hemispheric (RH) stroke patients without neglect. For prediction-dependent attention, as assessed with Posner-type cueing paradigms with volatile cue-target contingencies, studies in healthy volunteers point to a crucial role of the right temporo-parietal junction (rTPJ) - as part of a network commonly disrupted in neglect.
View Article and Find Full Text PDFEndophenotype presentation of athletes with concussion contingent on sex and time since injury.
Brain Inj
January 2025
Department of Sports Medicine, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
Introduction: Athletes with concussions experience heterogeneous symptoms and clinical trajectories. Subclassification provides diagnostic clarity that may improve prognostication and individualized treatments.
Methods: We hypothesized that endophenotypes of adolescent athletes with concussions differ based on sex and time since injury.
Biomarkers.
Alzheimers Dement
December 2024
Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Background: SuperAgers-individuals age 80+ with episodic memory performance at least as good as those 20-30 years younger-provide a unique perspective on cognitive resilience and resistance in aging. The SuperAging Research Initiative (SRI), spearheaded by The University of Chicago and involving multiple academic partners, investigates factors underpinning robust cognitive aging. One key SRI project, leverages a fully remote data collection paradigm to: 1) discern activity patterns that characterize SuperAgers and 2) explore the 'complexity hypothesis in aging'-whether dynamic physiological responsiveness is a hallmark of exceptional cognitive aging.
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