ArticleAnnals of clinical and translational neurology2022
Biochemical and clinical biomarkers in adult SMA 3-4 patients treated with nusinersen for 22 months.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Proteomic alterations in cerebrospinal fluid of spinal muscular atrophy patients undergoing nusinersen therapy: a systematic review and meta-analysis of potential biomarkers of treatment response.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- RNA biomarkers in spinal muscular atrophy: enhancing pathogenesis understanding and guiding precision medicine.Cellular and molecular life sciences : CMLS · 2026Review
- Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025Review
- Neurodegenerative and neuroinflammatory changes in SOD1-ALS patients receiving tofersen.Scientific reports · 2025Article
- Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.Neurology · 2025Article
- Biomarkers in spinal muscular atrophy.Frontiers in neurology · 2025Review
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
- The Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review.Journal of clinical medicine · 2024Review
- Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.European journal of neurology · 2024Article
- Neurofilaments as biomarkers in neurological disorders - towards clinical application.Nature reviews. Neurology · 2024Review
- Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen.International journal of molecular sciences · 2024Article
- Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.Acta neuropathologica · 2024Article
- Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.Journal of neuromuscular diseases · 2024Article
- Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.Frontiers in neurology · 2024Article
- Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.Journal of clinical medicine · 2023Article
- Biomarkers in 5q-associated spinal muscular atrophy-a narrative review.Journal of neurology · 2023Review
- Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.Cellular and molecular life sciences : CMLS · 2023Article
- Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy.Medicina (Kaunas, Lithuania) · 2023Article
- Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study.Brain and behavior · 2023Article
- Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.Journal of neuromuscular diseases · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate biomarkers of disease progression in cerebrospinal fluid (CSF) and serum in adult patients with spinal muscular atrophy (SMA). Furthermore, we assess the clinical response to nusinersen treatment in adults with SMA over a longer follow-up period than the previously reported 6-14 months.
methodsWe included 16 adults with SMA type 3-4 for nusinersen treatment over 22 months in this prospective study. We evaluated chitotriosidase-1 (CHIT1) and chitinase-3-like protein 1 (YKL-40) as neuroinflammatory biomarkers in CSF, and neurofilament light chain (NfL) and heavy chain (pNfH) as neurodegenerative markers in CSF and serum at baseline, month 6, 14 and 22, together with a wide range of clinical outcome measures.
resultsLevels of CHIT1 increased significantly (p = 0.048) throughout the 22-month treatment period and pNfH decreased significantly (p = 0.022) in CSF, but both did not correlate with clinical outcome measures. YKL-40 correlated strongly with neurofilaments in CSF (rho = 0.76) and decreased significantly (p = 0.037) in patients with improvements in the revised upper limb module (RULM). Finally, patients showed significant improvements in hand grip strength, hand motor function, medical research council (MRC) sum score, and peak expiratory flow (PEF) after 22 months of treatment.
interpretationYKL-40 in CSF correlated with clinical improvements during nusinersen treatment. In contrast, CHIT1 and pNfH in CSF changed significantly during treatment but did not correlate with clinical outcomes. Finally, we demonstrated a sustained clinical effect of nusinersen treatment in adults after 22 months.
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