ReviewMolecular neurobiology2018
Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.
Review in Molecular neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis.CNS drugs · 2019Pooled it
- Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PloS one · 2018Trial
- Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.Journal of neuromuscular diseases · 2026Article
- Disease-Modifying Therapies in Spinal Muscular Atrophy: Neurodevelopmental and Behavioral Outcomes in the Treatment Era.Advances in therapy · 2026Review
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.International journal of neonatal screening · 2026Article
- Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.Cell reports. Medicine · 2026Article
- Pre-symptomatic treatment of spinal muscular atrophy: a strategic shift from concept to clinical practice.World journal of pediatrics : WJP · 2026Article
- Therapeutic strategies for spinal muscular atrophy: the history and future perspective.Frontiers in human neuroscience · 2026Review
- Early Intervention and Speed-to-Effect in Spinal Muscular Atrophy Type 1 Following Onasemnogene Abeparvovec Gene Replacement Therapy: Results of aPost-Hoc Analysis of Pooled Clinical Study Data.Neurology and therapy · 2025Article
- Gene therapy with covalently closed-end AAV vector for spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.Orphanet journal of rare diseases · 2025Article
- Longitudinal Efficacy of Nusinersen Treatment on Health-Related Quality of Life and Independence in Children With Later-Onset Spinal Muscular Atrophy.Muscle & nerve · 2025Article
- Gene therapy for spinal muscular atrophy: timing is key.The Lancet regional health. Europe · 2024Article
- Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.Arquivos de neuro-psiquiatria · 2024Article
- Why should a 5q spinal muscular atrophy neonatal screening program be started?Arquivos de neuro-psiquiatria · 2024Review
- Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study.Journal of clinical medicine · 2024Article
- Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.Annals of clinical and translational neurology · 2024Article
- Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.Annals of clinical and translational neurology · 2024Article
- Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg.International journal of neonatal screening · 2024Article
- Timing of SMN replacement therapies in mouse models of spinal muscular atrophy: a systematic review and meta-analysis.Brain communications · 2024Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by the degeneration of lower motor neurons (MNs) in the spinal cord and brain stem, which results in relentless muscle weakness and wasting, leading to premature death due to respiratory complications. The identification of the specific mutations in the survival motor neuron 1 (SMN1) gene that causes SMA has led to the development of experimental therapeutic strategies to increase SMN protein expression, including antisense oligonucleotides, small molecules, and gene therapy, which have so far shown promising results. The timing of therapeutic intervention is crucial since most of the degeneration in MNs occurs in the first months of life in patients with SMA type 1, which is the most severe and common form of SMA. Nevertheless, a precise temporal window for therapeutic intervention has not yet been identified. Evidence from in vivo studies in mice and large animals suggested that early therapeutic intervention for SMA correlated with better motor performance, longer survival, and, occasionally, rescue of the pathological phenotype. Indeed, the need to compensate for the loss of SMN protein function seemed to diminish during adulthood (even though repair ability after nerve injury remained impaired), suggesting the possibility of tapering the therapy administration late in the disease course. Moreover, recent clinical trials on children afflicted with SMA type 1 have shown a more rapid achievement of motor milestones and diminished disease severity when therapy was administered at an early age and earlier in the disease course. Finally, these results highlight the importance of newborn screening for SMA to facilitate early diagnosis and present the patient with available treatments while they are still in the presymptomatic stage.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.