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Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Eur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFSafety and efficacy of intrathecal antibodies to Nogo-A in patients with acute cervical spinal cord injury: a randomised, double-blind, multicentre, placebo-controlled, phase 2b trial.
Lancet Neurol
January 2025
Spinal Cord Injury Center, Balgrist University Hospital, University of Zurich, Zurich, Switzerland.
Background: Spinal cord injury results in permanent neurological impairment and disability due to the absence of spontaneous regeneration. NG101, a recombinant human antibody, neutralises the neurite growth-inhibiting protein Nogo-A, promoting neural repair and motor recovery in animal models of spinal cord injury. We aimed to evaluate the efficacy of intrathecal NG101 on recovery in patients with acute cervical traumatic spinal cord injury.
View Article and Find Full Text PDFDesigning and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL).
Cerebellum
December 2024
Neuroscience Research Australia and University of New South Wales, UNSW, Randwick, NSW, Australia.
Patients with Hereditary Spastic Paraplegia (HSP) report reduced quality of life (QoL) compared to the general population. Generic QoL measures do not address disease-specific aspects such as spasticity, access to specialty HSP clinics, and bladder symptoms. We designed and validated a HSP-specific QoL scale (HSPQoL), intended for use in standard clinical settings and clinical trials.
View Article and Find Full Text PDFKIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neurons.
Neurobiol Dis
January 2025
Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam and VU Medical Center, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands. Electronic address:
Mutations in the microtubule-binding motor protein kinesin 5 A (KIF5A) are implicated in several adult-onset motor neuron diseases, including Amyotrophic Lateral Sclerosis, Spastic Paraplegia Type 10 and Charcot-Marie-Tooth Disease Type 2. While KIF5 family members transport a variety of cargos along axons, the specific cargos affected by KIF5A mutations remain poorly understood. Here, we generated KIF5Anull mutant human motor neurons and analyzed the impact on axonal transport and motor neuron outgrowth and regeneration in vitro.
View Article and Find Full Text PDFVenous thromboembolism treatment failure during use of factor Xa inhibitors-association with thoracic outlet syndrome and development of chronic thromboembolic pulmonary hypertension.
Ann Med
December 2024
Heart and Lung Center, Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Article Synopsis
- Factor Xa inhibitors are commonly used to treat venous thromboembolism (VTE), but a small percentage of patients experience treatment failure, prompting this study to explore the causes of recurrent VTE in those receiving FXaIs.
- The study included ten patients, mostly young adults with significant underlying VTE risk factors despite initial assessments suggesting unprovoked VTE, highlighting conditions like thoracic outlet syndrome contributing to their risks.
- Results indicated that treatment failure occurred within a few months, often leading to serious complications like chronic thromboembolic pulmonary hypertension, and emphasized the importance of tailored treatment strategies and careful risk evaluation for patients with recurrent VTE.
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