SynthesisNeurobiology of aging2017
ATXN2 trinucleotide repeat length correlates with risk of ALS.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 1 pooled it
6.5field-weighted citation impact, top 3% of its field
What it found
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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.
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Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- The Current Potential Pathogenesis of Amyotrophic Lateral Sclerosis.Molecular neurobiology · 2025Pooled it
- ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Expanding the Genetic Landscape ofNeurology. Genetics · 2026Article
- Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.Frontiers in neurology · 2026Article
- Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.BMJ neurology open · 2026Article
- Cerebellar ataxia-onset ALS withFrontiers in neurology · 2026Article
- Cutting-edge treatments in amyotrophic lateral sclerosis: the role of molecular pathogenesis in targeted therapies.Stem cell research & therapy · 2025Review
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.European journal of human genetics : EJHG · 2025Observational
- Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.HGG advances · 2025Article
- Viral-mediated knockdown of Atxn2 attenuates TDP-43 pathology and muscle dysfunction in the PFN1Acta neuropathologica communications · 2025Article
- Gene therapy breakthroughs in ALS: a beacon of hope for 20% of ALS patients.Translational neurodegeneration · 2025Review
- The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.Brain communications · 2025Article
- Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis.Frontiers in neurology · 2025Review
- Co-Aggregation of TDP-43 with Other Pathogenic Proteins and Their Co-Pathologies in Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- Role of RNA modifications in blood development and regeneration.Experimental hematology · 2024Review
- Altered mRNA transport and local translation in iNeurons with RNA binding protein knockdown.bioRxiv : the preprint server for biology · 2024Article
- Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.Nature communications · 2024Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors at 18 institutions in 10 countries.
William SprovieroDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Aleksey ShatunovDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Daniel StahlDepartment of Biostatistics, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Maryam ShoaiDepartment of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Wouter van RheenenDepartment of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
Ashley R JonesDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Safa Al-SarrajDepartment of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.
Peter M AndersenDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
Nancy M BoniniDepartment of Biology, University of Pennsylvania, Philadelphia, PA, USA.
Francesca L ConfortiInstitute of Neurological Sciences, National Research Council, Cosenza, Italy.
Philip Van DammeNeurology Department, University Hospitals Leuven, Leuven, Belgium; Vesalius Research Center, VIB, Leuven, Belgium; Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium.
Hussein DaoudMontreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Maria Del Mar AmadorDepartment of Nervous System Diseases, ALS Paris ALS Center for Rare Diseases, Groupe Hospitalier Pitié Salpêtrière, APHP, Paris, France.
Isabella FoghDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Monica ForzanClinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
Ben GaastraDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Cinzia GelleraFondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Aaron D GitlerDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
John HardyDepartment of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Pietro FrattaSobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK.
Vincenzo La BellaALS Clinical Research Center, Bio. Ne. C., University of Palermo, Palermo, Italy.
Isabelle Le BerInstitut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France; AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Centre de Référence des Démences Rares, Departement de Neurologie, Paris, France.
Tim Van LangenhoveNeurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Insititute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
Serena LattanteInstitut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
Yi-Chung LeeDepartment of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.
Andrea MalaspinaNorth-East London and Essex MND Care Centre - Neuroscience and Trauma Centre, Blizard, Institute of Cell and Molecular Medicine, Barts & the London School of Medicine & Dentistry, Barts Health NHS Trust, London, UK.
Vincent MeiningerHôpital de la Pitié-Salpêtrière, institut de recherche translationnelle en neurosciences (A-ICM), Paris, France; Hôpital de la Pitié-Salpêtrière, réseau SLA IdF, Paris, France.
Stéphanie MillecampsInstitut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
Richard OrrellDepartment of Clinical Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Rosa RademakersDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Wim RobberechtVesalius Research Center, VIB, Leuven, Belgium; Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium.
Guy RouleauMontreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Francois SalachasDepartment of Nervous System Diseases, ALS Paris ALS Center for Rare Diseases, Groupe Hospitalier Pitié Salpêtrière, APHP, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
Katie SidleDepartment of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Bradley N SmithDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Bing-Wen SoongDepartment of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.
Gianni SorarùDepartment of Neurosciences, University of Padova, Padova, Italy.
Giovanni StevaninInstitut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France; Neurogenetics team, Ecole Pratique des Hautes Etudes, Paris, France.
Edor KabashiInstitut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
Claire TroakesDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Christine van BroeckhovenNeurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Insititute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
Leonard H van den BergDepartment of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
Christopher E ShawDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
John F PowellDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK. Electronic address: ammar.al-chalabi@kcl.ac.uk.
King's College London · GBCentre National de la Recherche Scientifique · FRUniversity College London · GBHeidelberg University · DEJacksonville College · USMontreal Neurological Institute and Hospital · CANational Yang Ming Chiao Tung University · TWSorbonne Université · FRUniversity of Antwerp · BEUniversity of Padua · ITVIB-KU Leuven Center for Microbiology · BEAzienda Ospedaliera di Cosenza · ITBarts Health NHS Trust · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITStanford Medicine · USUmeå University · SEUniversity of Palermo · ITUniversity of Pennsylvania · US
Funding
Molecular Genetic Insight into Neurodegenerative Disease from DrosophilaR35NS097275 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI BONINI, NANCY M · 2017 to 2024
$6.0MMedical Research Council G0300329Medical Research Council G0500289Medical Research Council G0501573Medical Research Council G0600974Medical Research Council G0900635Medical Research Council G0900688Medical Research Council G1100695Medical Research Council MC_G1000733Medical Research Council MR/L021803/1Medical Research Council MR/L501529/1Medical Research Council MR/M008606/1Motor Neurone Disease Association AL-CHALABI/APR15/844-791Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association FRATTA/JAN15/946-795Motor Neurone Disease Association JONES/OCT15/958-799Motor Neurone Disease Association MALASPINA/APR13/817-791Motor Neurone Disease Association SHAW/NOV14/985-797MRF_ MRF-060-0003-RG-SMITHNINDS NIH HHS R35 NS097275Wellcome Trust
Abstract
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10
Indexed as
Genetic Association StudiesAge of OnsetAllelesAmyotrophic Lateral SclerosisAtaxin-2Case-Control StudiesFemaleHumansMaleRiskTrinucleotide Repeat ExpansionTrinucleotide RepeatsAtaxin-2ATXN2 protein, humanAge of onsetALSAmyotrophic lateral sclerosisATXN2CAGExpansionExponential riskIntermediate expansionRiskSCA2Trinucleotide repeatTriplet
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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.