Observational studyNature communications2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Erratum issuedOpen access · goldAbstract readObservational Study
In one paragraph
Observational study in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
6.5field-weighted citation impact, top 2% of its field
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
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Journal of neurology · 2024Pooled it
- Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis.JAMA neurology · 2026Trial
- Drosophila: An Emerging New Approach Method (NAM) for Studying Amyotrophic Lateral Sclerosis (ALS).Cells · 2026Review
- Domain-dependent uncoupling of the co-chaperone and E3 ubiquitin ligase CHIP underlies heterogeneity in spinocerebellar ataxia 48.The Journal of biological chemistry · 2026Article
- Exploring the Lived Experiences of Individuals with Amyotrophic Lateral Sclerosis (ALS): A Qualitative Study and Conceptual Model of Signs, Symptoms, and Functional Impacts.Neurology and therapy · 2026Article
- High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.Annals of neurology · 2026Article
- SOD1 deficiency drives ferroptosis-linked oxidative and reproductive aging, mitigated by ginseng root extract.GeroScience · 2026Article
- Accelerated brain aging in amyotrophic lateral sclerosis and its prognostic associations: a cohort study.BMC medicine · 2026Article
- A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.Communications biology · 2025Article
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Heterogeneity of frequencies of motor neuron disease across ethnicities and geographical areas: focus on Arabic countries in the Mediterranean area.Current opinion in neurology · 2025Review
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of aInternational journal of molecular sciences · 2025Article
- Neurodegenerative and neuroinflammatory changes in SOD1-ALS patients receiving tofersen.Scientific reports · 2025Article
- Data linkage multiplies research insights across diverse healthcare sectors.Communications medicine · 2025Review
- SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.Journal of neurology · 2025Article
- The RNA revolution in medicine: from gene regulation to clinical therapeutics.Animal cells and systems · 2025Review
- Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.Human mutation · 2025Article
- Updated Genetic Analysis of Japanese Familial ALS Patients CarryingNeurology. Genetics · 2024Article
- Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a NovelNeurology. Genetics · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
49 authors at 20 institutions in 15 countries.
Sarah Opie-Martin *Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Alfredo Iacoangeli *Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-5280-5017
Simon D ToppDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-5200-3284
Olubunmi AbelHomerton University Hospital, Homerton Row, London, E9 6SR, UK.
Keith MaylDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Puja R MehtaDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-0255-407X
Aleksey ShatunovDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Isabella FoghDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Harry BowlesDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Naomi LimbachiyaDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-0200-4676
Thomas P SpargoDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Ahmad Al-KhleifatDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-7406-9831
Kelly L WilliamsMacquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-6319-9473
Jennifer Jockel-BalsarottiDepartment of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA.
Taha BaliDepartment of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA.
Wade SelfDepartment of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA.ORCID http://orcid.org/0000-0003-1648-6124
Lyndal HendenMacquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-5541-7637
Garth A NicholsonMacquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-9694-066X
Nicola TicozziDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.ORCID http://orcid.org/0000-0001-5963-7426
Diane McKenna-YasekDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA.
Lu TangDepartment of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China.
Pamela J ShawSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, S10 2HQ, UK.ORCID http://orcid.org/0000-0002-8925-2567
Adriano ChioRita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Albert LudolphDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Jochen H WeishauptDepartment of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA.ORCID http://orcid.org/0000-0001-8084-5043
Jonathan D GlassDepartment Neurology, Emory University School of Medicine, Atlanta, GA, 30322, USA.ORCID http://orcid.org/0000-0002-3295-4971
Jesus S MoraALS Unit, Department of Neurology, Hospital San Rafael, 28016, Madrid, Spain.ORCID http://orcid.org/0000-0001-6633-5354
Wim RobberechtNeurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Philip Van DammeNeurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.ORCID http://orcid.org/0000-0002-4010-2357
Russell McLaughlinComplex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, D02 PN40, Ireland.ORCID http://orcid.org/0000-0003-3915-2135
Orla HardimanAcademic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, D02 PN40, Ireland.
Leonard van den BergDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands.
Jan H VeldinkDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Phillippe CorciaCentre de Référence pour la SLA et les Autres Maladies du Motoneurone (FILSLAN), 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.
Zorica StevicNeurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Studentski trg 1, Belgrade, Serbia.
Nailah SiddiqueNeuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA.
Vincenzo SilaniDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.
Ian P BlairMacquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.
Dong-Sheng FanDepartment of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China.
Florence EsselinReference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France.
Elisa de la CruzReference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France.ORCID http://orcid.org/0000-0003-3345-1628
William CamuReference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France.ORCID http://orcid.org/0000-0003-1287-7355
Nazli A BasakKoç University, School of Medicine Translational Medicine Research Center KUTTAM-NDAL, 34450, Sarıyer, Istanbul, Turkey.
Teepu SiddiqueNeuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA.ORCID http://orcid.org/0000-0001-7293-9146
Timothy MillerDepartment of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA.
Robert H BrownDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA.ORCID http://orcid.org/0000-0001-6062-1528
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.ORCID http://orcid.org/0000-0002-4924-7712
Christopher E ShawUK Dementia Research Institute Centre at King's College London, School of Neuroscience, King's College London, Strand, London, WC2R 2LS, UK. chris.shaw@kcl.ac.uk.
King's College London · GBWashington University in St. Louis · USHôpital Gui de Chauliac · FRMacquarie University · AUUniversity of Massachusetts Chan Medical School · USHeidelberg University · DENorthwestern University · USPeking University · CNTrinity College Dublin · IEUniversität Ulm · DEUniversity of Milan · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITConcord Repatriation General Hospital · AUEmory University · USFamilies USA · USHomerton University Hospital · GBHospital Universitario San Rafael · ESKoç University · TRKU Leuven · BENorth-Eastern Federal University · RU
Funding
Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6MIdentification and Characterization of ALS/FTD Associated Variants Using Whole Genome SequencingR56NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2020 to 2020
$586kMedical Research Council MR/L501529/1Medical Research Council MR/R024804/1Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association MCLAUGHLIN/OCT15/957-799NINDS NIH HHS R01 NS073873NINDS NIH HHS R56 NS073873
Abstract
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability.
Indexed as
Amyotrophic Lateral SclerosisHumansMutationPhenotypeSuperoxide DismutaseSuperoxide Dismutase-1SOD1 protein, humanSuperoxide DismutaseSuperoxide Dismutase-1
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.