ArticleNature medicine2024
Increased frequency of repeat expansion mutations across different populations.
Abstract read
In one paragraph
Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.Journal of Huntington's disease · 2026Pooled it
- Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- Discovery of a mutation-containing circRNA in polyglutamine disease through systematic analysis of RNAs with CAG repeats.RNA biology · 2026Article
- Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study.Journal of neurology · 2026Article
- Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights.Nature communications · 2026Article
- Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias.Cells · 2026Review
- Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.Journal of Huntington's disease · 2026Review
- Dissecting the relationship between haplotypes around ATXN2 CAG repeats and the number of CAA interruptions by long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism.PNAS nexus · 2026Article
- Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling.PLoS genetics · 2026Article
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.medRxiv : the preprint server for health sciences · 2026Article
- Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study.Orphanet journal of rare diseases · 2026Article
- Tandem repeat variation within and between species reveals signatures of selection in humans and chimpanzees.bioRxiv : the preprint server for biology · 2026Article
- High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.Annals of neurology · 2026Article
- Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.Neurology. Genetics · 2026Review
- CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.International journal of molecular sciences · 2026Article
- Article
- Reframing AI for Rare Disease Recognition.Research square · 2026Article
Corrections and comments
- Update of
Authors and funding
30 authors.
Kristina IbañezWilliam Harvey Research Institute, Queen Mary University of London, London, UK.
Bharati JadhavDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Matteo ZanovelloDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.ORCID http://orcid.org/0000-0003-3343-1547
Delia GagliardiWilliam Harvey Research Institute, Queen Mary University of London, London, UK.
Christopher ClarksonWilliam Harvey Research Institute, Queen Mary University of London, London, UK.
Stefano FacchiniDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Paras GargDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alejandro Martin-TrujilloDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Scott J GiesDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Valentina Galassi DeforieDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Anupriya DalmiaUK Dementia Research Institute, UCL, London, UK.
Davina J Hensman MossSt George's, University of London, London, UK.
Jana VandrovcovaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Clarissa RoccaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Loukas MoutsianasGenomics England, London, UK.
Chiara Marini-BettoloThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Helen WalkerThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Chris TurnerCentre for Neuromuscular Disease, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Maryam ShoaiDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.
Jeffrey D LongDepartments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA.ORCID http://orcid.org/0000-0001-7181-9652
Pietro FrattaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.ORCID http://orcid.org/0000-0002-8762-8188
Douglas R LangbehnDepartments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA.
Sarah J TabriziUK Dementia Research Institute, UCL, London, UK.ORCID http://orcid.org/0000-0003-2716-2045
Mark J CaulfieldWilliam Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0001-9295-3594
Andrea CorteseDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Valentina Escott-PriceDepartment of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-1784-5483
John HardyDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.
Henry HouldenDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Andrew J SharpDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-1415-5129
Arianna TucciWilliam Harvey Research Institute, Queen Mary University of London, London, UK. a.tucci@qmul.ac.uk.ORCID http://orcid.org/0000-0001-5644-0070
Funding
Critical Path to Public Private PartnershipsU18FD005320 · FDA · CRITICAL PATH INSTITUTE · PI Klaus Romero · 2014 to 2026
$127.1MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MSupplement Proposal: Accelerated Genome Aggregation and Joint Variant Calling EffortUM1HG008853 · NHGRI · WASHINGTON UNIVERSITY · PI HALL, IRA M, MILBRANDT, JEFFREY D · 2016 to 2020
$76.2MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MGenetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MFRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN · 2019 to 2024
$29.8MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MGenetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MExceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5MFDA HHS U18 FD005320NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NHGRI NIH HHS UM1 HG008853NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG075051NIA NIH HHS RF1 AG075051NICHD NIH HHS R03 HD103782NIDDK NIH HHS P30 DK063491NIH HHS S10 OD018522NIH HHS S10 OD030463NIMHD NIH HHS HHSN268201800013ININDS NIH HHS R01 NS105781NINDS NIH HHS U01 NS120241RCUK | Medical Research Council (MRC) MR/S006753/1Wellcome Trust
Abstract
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions and technological limitations leading to underascertainment. Here, leveraging whole-genome sequencing data from 82,176 individuals from different populations, we found an overall disease allele frequency of REDs of 1 in 283 individuals. Modeling disease prevalence using genetic data, age at onset and survival, we show that the expected number of people with REDs would be two to three times higher than currently reported figures, indicating underdiagnosis and/or incomplete penetrance. While some REDs are population specific, for example, Huntington disease-like 2 in Africans, most REDs are represented in all broad genetic ancestries (that is, Europeans, Africans, Americans, East Asians and South Asians), challenging the notion that some REDs are found only in specific populations. These results have worldwide implications for local and global health communities in the diagnosis and counseling of REDs.
Indexed as
Gene FrequencyDNA Repeat ExpansionGenetics, PopulationHumansHuntington DiseaseMaleMutationPrevalenceTrinucleotide Repeat ExpansionWhole Genome Sequencing
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.