ArticleNeurology. Genetics2019
Impaired kidney structure and function in spinal muscular atrophy.
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Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30citing papers in PubMed
3.6field-weighted citation impact, top 7% of its field
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30 citing papers in PubMed, 42 citations in OpenAlex.
- Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment.RNA biology · 2026Review
- Pharmacovigilance and network toxicology analysis of risdiplam-associated adverse events in pediatric patients with spinal muscular atrophy.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Serum creatinine to cystatin C ratio as a biomarker for monitoring motor-function in children with spinal muscular atrophy treated with nusinersen: a retrospective cohort study.BMC neurology · 2026Article
- Early life safety profiling of gene therapy for spinal muscular atrophy.Gene therapy · 2026Article
- Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026Review
- Safety through design: Expanding options for spinal muscular atrophy gene therapy.Molecular therapy. Methods & clinical development · 2025Article
- Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association?Frontiers in pediatrics · 2025Article
- The Impact of Comorbidities and Motor Impairment on the Quality of Life of Patients with Spinal Muscular Atrophy: A Case-Control Study.Journal of clinical medicine · 2024Article
- Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy.Nature biomedical engineering · 2024Article
- Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy.Pharmaceutics · 2023Review
- Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy.Cell death & disease · 2023Article
- Antibody-oligonucleotide conjugate achieves CNS delivery in animal models for spinal muscular atrophy.JCI insight · 2022Article
- The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA).Cellular and molecular life sciences : CMLS · 2022Review
- Article
- Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies.Children (Basel, Switzerland) · 2022Review
- R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy.Frontiers in cellular neuroscience · 2022Review
- Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice.Neurobiology of disease · 2021Article
- Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.Neural regeneration research · 2021Review
- Review
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Authors and funding
14 authors at 2 institutions in 2 countries.
Flávia C NeryDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Jennifer J SiranosianDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Ivy RosalesDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0003-0621-3202
Marc-Olivier DeguiseDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0002-3802-1195
Amita SharmaDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Abdurrahman W MuhtasebDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0001-5118-8769
Pann NweDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Alec J JohnstoneDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Ren ZhangDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Maryam FatouraeiDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Natassja HuemerDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
Christiano R R AlvesDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0002-2646-9689
Rashmi KotharyDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0002-9239-7310
Kathryn J SwobodaDepartment of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.
University of Ottawa · CAMassachusetts General Hospital · US
Funding
Neural and non-neural contributions to phenotype in human SMA type 1R21NS108015 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SWOBODA, KATHRYN J. · 2018 to 2019
$463kNINDS NIH HHS R21 NS108015
Abstract
objectiveTo determine changes in serum profiles and kidney tissues from patients with spinal muscular atrophy (SMA) type 1 compared with age- and sex-matched controls.
methodsIn this cohort study, we investigated renal structure and function in infants and children with SMA type 1 in comparison with age- and sex-matched controls.
resultsPatients with SMA had alterations in serum creatinine, cystatin C, sodium, glucose, and calcium concentrations, granular casts and crystals in urine, and nephrocalcinosis and fibrosis. Nephrotoxicity and polycystic kidney disease PCR arrays revealed multiple differentially expressed genes, and immunoblot analysis showed decreased calcium-sensing receptors and calbindin and increased insulin-like growth factor-binding proteins in kidneys from patients with SMA.
conclusionsThese findings demonstrate that patients with SMA type 1, in the absence of disease-modifying therapies, frequently manifest impaired renal function as a primary or secondary consequence of their disease. This study provides new insights into systemic contributions to SMA disease pathogenesis and the need to identify coadjuvant therapies.
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