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Tofersen and other antisense oligonucleotides in ALS.
Ther Adv Neurol Disord
January 2025
Department of Neurology, Ulm University, Ulm, Germany.
The advent of antisense oligonucleotide (ASO) therapies in neurodegenerative disorders is associated with enormous hope. Nusinersen treatment was a breakthrough intervention in the recessive disease spinal muscular atrophy, and superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS) seems to be the paradigm disease in dominant degenerative diseases. The results of treatment with the ASO tofersen in SOD1-ALS show that the drug has a convincing beneficial effect on ALS caused by SOD1 mutations, that preclinical studies in rodents predicted the therapeutic effect in the human disease, and that clinical efficacy is associated with a specific sequence of effects of the drug on mechanistic and degenerative biomarkers and, subsequently, functional outcomes such as weight stabilization and ALSFRS-R.
View Article and Find Full Text PDFUse of Lung Volume Recruitment Technique in Patients With Chronic Respiratory Disease Among Brazilian Health Professionals.
Pulm Med
January 2025
Post Graduation Department, Escola Superior de Ciências da Saúde (ESCS), Brasilia, Distrito Federal, Brazil.
Lung volume recruitment (LVR) is a stacked-breath assisted inflation technique in which consecutive insufflations are delivered, without exhaling in between, until the maximum tolerable inflation capacity is reached. Although LVR is recommended in some neuromuscular disease guidelines, there is little information detailing when and how allied health professionals (AHPs) prescribe LVR. This study is aimed at describing the use of LVR in practice across Brazil.
View Article and Find Full Text PDFWhole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures.
Exp Biol Med (Maywood)
January 2025
Institute of Clinical Medicine, University Tartu, Tartu, Estonia.
Blood-based biomarkers for motor neuron disease are needed for better diagnosis, progression prediction, and clinical trial monitoring. We used whole blood-derived total RNA and performed whole transcriptome analysis to compare the gene expression profiles in (motor neurone disease) MND patients to the control subjects. We compared 42 MND patients to 42 aged and sex-matched healthy controls and described the whole transcriptome profile characteristic for MND.
View Article and Find Full Text PDFRevisiting motor unit recruitment to TMS in amyotrophic lateral sclerosis: cortical inhibition is retained during voluntary contractions.
Exp Brain Res
January 2025
Dept. of Neurosurgery, Upstate Medical University, 750 E. Adams St, Syracuse, NY, 13210, USA.
Transcranial magnetic stimulation (TMS) has been used for many years to study the pathophysiology of amyotrophic lateral sclerosis (ALS). Based on single- or dual-pulse TMS and EMG and/or single motor unit (MU) recordings, many groups have described a loss of central inhibition as an early marker of ALS dysfunction, reflecting a state of cortical 'hyperexcitability'. This conclusion is not without its detractors, however, leading us to reexamine this issue using 4-pulse TMS, shown previously to be more effective for testing central motor pathway functional integrity.
View Article and Find Full Text PDFMaximizing the translational potential of neurophysiology in amyotrophic lateral sclerosis: a study on compound muscle action potentials.
Amyotroph Lateral Scler Frontotemporal Degener
January 2025
Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK and.
Mouse models of amyotrophic lateral sclerosis (ALS) enable testing of novel therapeutic interventions. However, treatments that have extended survival in mice have often failed to translate into human benefit in clinical trials. Compound muscle action potentials (CMAPs) are a simple neurophysiological test that measures the summation of muscle fiber depolarization in response to maximal stimulation of the innervating nerve.
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