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Respiratory failure as main presentation sign of MAPT-related disorder.
J Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
View Article and Find Full Text PDFCBGTPy: An extensible cortico-basal ganglia-thalamic framework for modeling biological decision making.
PLoS One
January 2025
Departament de Ciències Matemàtiques i Informàtica, Universitat de les Illes Balears, Palma, Spain.
Here we introduce CBGTPy, a virtual environment for designing and testing goal-directed agents with internal dynamics that are modeled on the cortico-basal-ganglia-thalamic (CBGT) pathways in the mammalian brain. CBGTPy enables researchers to investigate the internal dynamics of the CBGT system during a variety of tasks, allowing for the formation of testable predictions about animal behavior and neural activity. The framework has been designed around the principle of flexibility, such that many experimental parameters in a decision making paradigm can be easily defined and modified.
View Article and Find Full Text PDFCorrelation of repetitive behaviors in deer mice with striatal mRNA expression of endogenous opioids and mu, delta, kappa, and dopamine receptors.
Neuroscience
January 2025
Johns Hopkins University School of Medicine, Department of Neurology, and the Kennedy Krieger Institute, Baltimore, MD, United States.
Deer mice provide a valuable naturally occurring animal model for investigating pathophysiological mechanisms underlying repetitive behaviors. Prior investigations using this model have identified abnormalities in the cortico-basal ganglia circuitry, including alterations within the indirect pathway and levels of endogenous opioids in the frontal cortex. In this study, the behaviors of n = 7 mice were quantified, and their brains were sectioned.
View Article and Find Full Text PDFAlterations in functional connectivity of interoceptive and Cortico-Subcortical areas in Multiple Sclerosis-Related fatigue.
Neuroscience
December 2024
Department of Neurology, Oregon Health & Science University, Portland, OR, United States; APDM Precision Motion, Clario, Portland, Oregon, United States. Electronic address:
Fatigue in people with Multiple Sclerosis (PwMS) is a poorly understood, complex, and disabling symptom. We hypothesized that the perception of fatigue in PwMS results from increased information processing in cortical areas responsible for the perception of bodily states and decreased information processing in the cortico-basal ganglia network involved in the perception of motor performance. We investigated whether PwMS who perceive excessive fatigue would have increased resting-state functional connectivity (rsFC) between interoceptive brain areas (amygdala, anterior cingulate cortex [ACC], and insula) and decreased rsFC between cortico-basal ganglia premotor network compared to PwMS not reporting fatigue.
View Article and Find Full Text PDFIntermuscular coherence during co-contraction eliciting tasks as a biomarker for dystonia and GPi-DBS efficacy.
Clin Neurophysiol
December 2024
Department of Neurology, University Medical Center Groningen (UMCG), University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), the Netherlands. Electronic address:
Article Synopsis
- Clinical rating scales often miss the full range of dystonic symptoms, prompting the need for a reliable biomarker to assess the effectiveness of deep brain stimulation (GPi-DBS) for treating dystonia.
- In a study of 12 patients undergoing GPi-DBS, researchers found that those with arm dystonia had higher intermuscular coherence in the 4-12 Hz range before surgery, which significantly decreased after the procedure.
- Despite the observed changes in coherence, the study found no strong links between coherence levels and clinical rating scale scores, suggesting that more research is needed to determine the biomarker's clinical utility.
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