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Pan-neurofascin autoimmune nodoparanodopathy: A case report and literature review.
Medicine (Baltimore)
January 2025
Department of Neurology (Nerve-Muscle Unit), Reference Center for Neuromuscular Diseases "AOC," ALS Reference Center, University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, Bordeaux, France.
Rationale: Locked-in syndrome (and its variant, completely locked-in state) generally has a high mortality rate in the acute setting; however, when induced by conditions such as acute inflammatory polyradiculoneuropathy, it may well be curable such that an attempt at cure should be systematically sought by clinicians.
Patient Concerns: A 52-year-old man presented with acute tetraparesia and areflexia, initially diagnosed as Guillain-Barré syndrome. Despite appropriate treatment, his condition deteriorated, evolving into a completely locked-in state.
Consensus-Based Recommendations for Designing, Delivering, Evaluating, and Reporting Exercise Intervention Research Involving People Living With a Spinal Cord Injury.
Arch Phys Med Rehabil
November 2024
School of Health and Exercise Sciences, University of British Columbia, Kelowna, British Columbia, Canada; International Collaboration on Repair Discoveries (ICORD), Blusson Spinal Cord Centre (BSCC), University of British Columbia, Vancouver, Kelowna, British Columbia, Canada; Department of Medicine, Division of Physical Medicine & Rehabilitation, University of British Columbia, Vancouver, Kelowna, British Columbia, Canada; Centre for Chronic Disease Prevention and Management, University of British Columbia, Kelowna, Kelowna, British Columbia, Canada.
Objectives: To establish recommendations for designing, delivering, evaluating, and reporting exercise intervention research to improve fitness-related outcomes in people living with spinal cord injury (PwSCI).
Design: International consensus process.
Setting: (1) An expert panel was established consisting of 9 members of the governing panel of the International Spinal Cord Society Physical Activity Special Interest Group and 9 additional scientists who authored or co-authored ≥1 exercise randomized controlled trial paper involving PwSCI.
Non-invasive Transcutaneous Spinal Cord Stimulation Programming Recommendations for the Treatment of Upper Extremity Impairment in Tetraplegia.
Neuromodulation
January 2025
Departments of Rehabilitation Medicine, Electrical & Computer Engineering, Center for Neurotechnology, University of Washington. Seattle, WA, USA; Department of Physiology & Biophysics, University of Washington. Seattle, WA, USA. Electronic address:
Objectives: This study analyzes the stimulation parameters implemented during two successful trials that used non-invasive transcutaneous spinal cord stimulation (tSCS) to effectively improve upper extremity function after chronic spinal cord injury (SCI). It proposes a framework to guide stimulation programming decisions for the successful translation of these techniques into the clinic.
Materials And Methods: Programming data from 60 participants who completed the Up-LIFT trial and from 17 participants who subsequently completed the LIFT Home trial were analyzed.
Non-invasive spinal cord electrical stimulation for arm and hand function in chronic tetraplegia: a safety and efficacy trial.
Nat Med
May 2024
NeuroX Institute and Brain Mind Institute, School of Life Sciences, Swiss Federal Institute of Technology (EPFL), Geneva, Switzerland.
Cervical spinal cord injury (SCI) leads to permanent impairment of arm and hand functions. Here we conducted a prospective, single-arm, multicenter, open-label, non-significant risk trial that evaluated the safety and efficacy of ARC Therapy to improve arm and hand functions in people with chronic SCI. ARC Therapy involves the delivery of externally applied electrical stimulation over the cervical spinal cord during structured rehabilitation.
View Article and Find Full Text PDFA new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Brain
November 2024
Department of Biochemistry, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Inst of Technology, Haifa 3109601, Israel.
Mutations in the SLC1A4 transporter lead to neurodevelopmental impairments, spastic tetraplegia, thin corpus callosum and microcephaly in children. SLC1A4 catalyses obligatory amino acid exchange between neutral amino acids, but the physiopathology of SLC1A4 disease mutations and progressive microcephaly remain unclear. Here, we examined the phenotype and metabolic profile of three Slc1a4 mouse models: a constitutive Slc1a4-knockout mouse; a knock-in mouse with the major human Slc1a4 mutation (Slc1a4-K256E); and a selective knockout of Slc1a4 in brain endothelial cells (Slc1a4tie2-cre).
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