ReviewJournal of neurology2023
Biomarkers in 5q-associated spinal muscular atrophy-a narrative review.
Review in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Salbutamol in 5q spinal muscular atrophy: a systematic review and meta-analysis of efficacy and safety.European journal of pediatrics · 2025Pooled it
- Pooled it
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.European journal of neurology · 2026Article
- Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.European journal of neurology · 2025Observational
- A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.Orphanet journal of rare diseases · 2025Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025Review
- Serum creatinine to cystatin C ratio as monitoring biomarker in Chinese adult spinal muscular atrophy: a prospective cohort study.Orphanet journal of rare diseases · 2025Observational
- Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.Neurology · 2025Article
- Rehabilitation improves the effectiveness of nusinersen in children with type 2 spinal muscular atrophy: pNF-H and muscle MRI as potential biomarkers.Frontiers in neurology · 2025Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
- MicroRNAs as Biomarkers in Spinal Muscular Atrophy.Biomedicines · 2024Review
- Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.Annals of clinical and translational neurology · 2024Article
- Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.The Lancet regional health. Europe · 2024Article
- Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.Scientific reports · 2024Observational
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy.Frontiers in neurology · 2024Review
- Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic comparison of electrophysiologic with clinical outcome measures.European journal of neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive degeneration of motor neurons in the ventral horn. The disease is clinically characterized by proximal paralysis and secondary skeletal muscle atrophy. New disease-modifying drugs driving SMN gene expression have been developed in the past decade and have revolutionized SMA treatment. The rise of treatment options led to a concomitant need of biomarkers for therapeutic guidance and an improved disease monitoring. Intensive efforts have been undertaken to develop suitable markers, and numerous candidate biomarkers for diagnostic, prognostic, and predictive values have been identified. The most promising markers include appliance-based measures such as electrophysiological and imaging-based indices as well as molecular markers including SMN-related proteins and markers of neurodegeneration and skeletal muscle integrity. However, none of the proposed biomarkers have been validated for the clinical routine yet. In this narrative review, we discuss the most promising candidate biomarkers for SMA and expand the discussion by addressing the largely unfolded potential of muscle integrity markers, especially in the context of upcoming muscle-targeting therapies. While the discussed candidate biomarkers hold potential as either diagnostic (e.g., SMN-related biomarkers), prognostic (e.g., markers of neurodegeneration, imaging-based markers), predictive (e.g., electrophysiological markers) or response markers (e.g., muscle integrity markers), no single measure seems to be suitable to cover all biomarker categories. Hence, a combination of different biomarkers and clinical assessments appears to be the most expedient solution at the time.
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Registered trials
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.