{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T20:27:39Z","timestamp":1781382459074,"version":"3.54.1"},"posted":{"date-parts":[[2023,7,6]]},"group-title":"Genetic and Genomic Medicine","reference-count":90,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,7,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>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 under-ascertainment. 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. Modelling 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 under-diagnosis and\/or incomplete penetrance. While some REDs are population-specific, e.g. Huntington disease-like 2 in Africans, most REDs are represented in all broad genetic ancestries (i.e. 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 counselling of REDs.<\/jats:p>","DOI":"10.1101\/2023.07.03.23292162","type":"posted-content","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T15:41:08Z","timestamp":1688658068000},"source":"Crossref","is-referenced-by-count":5,"title":["Increased frequency of repeat expansion mutations across different populations"],"prefix":"10.64898","author":[{"given":"Kristina","family":"Iba\u00f1ez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bharati","family":"Jadhav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Zanovello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Gagliardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Clarkson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Facchini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paras","family":"Garg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Martin-Trujillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott J","family":"Gies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina Galassi","family":"Deforie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Dalmia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davina J. Hensman","family":"Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarissa","family":"Rocca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loukas","family":"Moutsianas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2499-8533","authenticated-orcid":false,"given":"Maryam","family":"Shoai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey D","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"EUROSCA network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7554-1632","authenticated-orcid":false,"given":"Pietro","family":"Fratta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R","family":"Langbehn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J","family":"Tabrizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J","family":"Caulfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1784-5483","authenticated-orcid":false,"given":"Valentina","family":"Escott-Price","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"54368","reference":[{"key":"2024071008300486000_2023.07.03.23292162v2.1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/B978-0-444-63233-3.00009-9","article-title":"Repeat expansion diseases","volume":"147","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"2024071008300486000_2023.07.03.23292162v2.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0372-4"},{"key":"2024071008300486000_2023.07.03.23292162v2.3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30394-1"},{"key":"2024071008300486000_2023.07.03.23292162v2.4","unstructured":"Gossye, H. , Engelborghs, S. , Van Broeckhoven, C. & van der Zee, J. C9orf72 Frontotemporal Dementia And\/or Amyotrophic Lateral Sclerosis. (University of Washington, Seattle, 2020)."},{"key":"2024071008300486000_2023.07.03.23292162v2.5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-325377"},{"key":"2024071008300486000_2023.07.03.23292162v2.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00241.x"},{"key":"2024071008300486000_2023.07.03.23292162v2.7","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00462-2"},{"key":"2024071008300486000_2023.07.03.23292162v2.8","first-page":"e1045","article-title":"Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program","volume":"96","year":"2021","journal-title":"Neurology"},{"key":"2024071008300486000_2023.07.03.23292162v2.9","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0510-y"},{"key":"2024071008300486000_2023.07.03.23292162v2.10","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/mdc3.12822","article-title":"The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review","volume":"6","year":"2019","journal-title":"Mov Disord Clin Pract"},{"key":"2024071008300486000_2023.07.03.23292162v2.11","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.jns.2018.04.031","article-title":"A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci","volume":"390","year":"2018","journal-title":"J. Neurol. Sci"},{"key":"2024071008300486000_2023.07.03.23292162v2.12","unstructured":"Bird, T. D. Myotonic Dystrophy Type 1. (University of Washington, Seattle, 2024)."},{"key":"2024071008300486000_2023.07.03.23292162v2.13","doi-asserted-by":"publisher","DOI":"10.1159\/000369343"},{"key":"2024071008300486000_2023.07.03.23292162v2.14","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25075"},{"key":"2024071008300486000_2023.07.03.23292162v2.15","first-page":"193","article-title":"The prevalence of Huntington\u2019s chorea in South Africa","volume":"58","year":"1980","journal-title":"S. Afr. Med. J"},{"key":"2024071008300486000_2023.07.03.23292162v2.16","doi-asserted-by":"publisher","DOI":"10.1159\/000443738"},{"key":"2024071008300486000_2023.07.03.23292162v2.17","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00014-0"},{"key":"2024071008300486000_2023.07.03.23292162v2.18","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(04)00737-9"},{"key":"2024071008300486000_2023.07.03.23292162v2.19","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1001\/jamaneurol.2019.0423","article-title":"Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts","volume":"76","year":"2019","journal-title":"JAMA Neurol"},{"key":"2024071008300486000_2023.07.03.23292162v2.20","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01174-1"},{"key":"2024071008300486000_2023.07.03.23292162v2.21","doi-asserted-by":"crossref","unstructured":"Tanudisastro, H. A. , Deveson, I. W. , Dashnow, H. & MacArthur, D. G . Sequencing and characterizing short tandem repeats in the human genome. Nat. Rev. Genet. (2024).","DOI":"10.1038\/s41576-024-00692-3"},{"key":"2024071008300486000_2023.07.03.23292162v2.22","unstructured":"Zanovello, M. et al. Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Brain (2023)."},{"key":"2024071008300486000_2023.07.03.23292162v2.23","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.4530893\/7"},{"key":"2024071008300486000_2023.07.03.23292162v2.24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2035790"},{"key":"2024071008300486000_2023.07.03.23292162v2.25","unstructured":"About TOPMed. https:\/\/topmed.nhlbi.nih.gov\/."},{"key":"2024071008300486000_2023.07.03.23292162v2.26","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2024071008300486000_2023.07.03.23292162v2.27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.011"},{"key":"2024071008300486000_2023.07.03.23292162v2.28","doi-asserted-by":"crossref","unstructured":"Sullivan, R. , et al. RFC1repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates. bioRxiv (2024).","DOI":"10.1101\/2024.02.28.24303510"},{"key":"2024071008300486000_2023.07.03.23292162v2.29","doi-asserted-by":"crossref","unstructured":"Dolzhenko, E. et al. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. Genome Med. 14, 84 (2022).","DOI":"10.1186\/s13073-022-01085-z"},{"key":"2024071008300486000_2023.07.03.23292162v2.30","unstructured":"Home - Office for National Statistics. https:\/\/www.ons.gov.uk\/."},{"key":"2024071008300486000_2023.07.03.23292162v2.31","doi-asserted-by":"crossref","unstructured":"Zampatti, S. et al. C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies. Front. Aging Neurosci. 14, 907122 (2022).","DOI":"10.3389\/fnagi.2022.907122"},{"key":"2024071008300486000_2023.07.03.23292162v2.32","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0009-8"},{"issue":"Suppl 1","key":"2024071008300486000_2023.07.03.23292162v2.33","first-page":"S96","article-title":"The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review","volume":"43","year":"2016","journal-title":"Can. J. Neurol. Sci"},{"key":"2024071008300486000_2023.07.03.23292162v2.34","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000524734","article-title":"Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis","volume":"56","year":"2022","journal-title":"Neuroepidemiology"},{"key":"2024071008300486000_2023.07.03.23292162v2.35","doi-asserted-by":"crossref","unstructured":"De Mattei, F. et al. Epidemiology of Spinocerebellar Ataxias in Europe. Cerebellum (2023).","DOI":"10.1007\/s12311-023-01600-x"},{"key":"2024071008300486000_2023.07.03.23292162v2.36","unstructured":"Opal, P. & Ashizawa, T. Spinocerebellar Ataxia Type 1. (University of Washington, Seattle, 2023)."},{"key":"2024071008300486000_2023.07.03.23292162v2.37","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.04.026"},{"key":"2024071008300486000_2023.07.03.23292162v2.38","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/acn3.51744","article-title":"C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort","volume":"10","year":"2023","journal-title":"Ann Clin Transl Neurol"},{"key":"2024071008300486000_2023.07.03.23292162v2.39","first-page":"100130","article-title":"A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry","volume":"3","year":"2022","journal-title":"HGG Adv"},{"key":"2024071008300486000_2023.07.03.23292162v2.40","doi-asserted-by":"crossref","unstructured":"Muthinja, M. J. et al. An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa. Ann. Hum. Genet. (2024).","DOI":"10.1111\/ahg.12557"},{"key":"2024071008300486000_2023.07.03.23292162v2.41","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32618"},{"key":"2024071008300486000_2023.07.03.23292162v2.42","doi-asserted-by":"publisher","DOI":"10.1086\/302067"},{"key":"2024071008300486000_2023.07.03.23292162v2.43","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1161\/01.CIR.91.2.513","article-title":"Unstable triplet repeat diseases","volume":"91","year":"1995","journal-title":"Circulation"},{"key":"2024071008300486000_2023.07.03.23292162v2.44","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.ebiom.2019.09.020","article-title":"A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes","volume":"48","year":"2019","journal-title":"EBioMedicine"},{"key":"2024071008300486000_2023.07.03.23292162v2.45","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0458-z"},{"key":"2024071008300486000_2023.07.03.23292162v2.46","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002858"},{"key":"2024071008300486000_2023.07.03.23292162v2.47","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.04.011"},{"key":"2024071008300486000_2023.07.03.23292162v2.48","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-106963"},{"key":"2024071008300486000_2023.07.03.23292162v2.49","doi-asserted-by":"crossref","unstructured":"Miyatake, S. et al. Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ Genom Med 7, 62 (2022).","DOI":"10.1038\/s41525-022-00331-y"},{"key":"2024071008300486000_2023.07.03.23292162v2.50","doi-asserted-by":"publisher","DOI":"10.1086\/318184"},{"key":"2024071008300486000_2023.07.03.23292162v2.51","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh251"},{"key":"2024071008300486000_2023.07.03.23292162v2.52","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/S1474-4422(24)00167-4","article-title":"Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis","volume":"23","year":"2024","journal-title":"Lancet Neurol"},{"key":"2024071008300486000_2023.07.03.23292162v2.53","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.09.019"},{"key":"2024071008300486000_2023.07.03.23292162v2.54","first-page":"297","article-title":"Current Status on Population Genome Catalogues in different Countries","volume":"16","year":"2020","journal-title":"Bioinformation"},{"key":"2024071008300486000_2023.07.03.23292162v2.55","unstructured":"Creators King , Thomas Butcher , Simon Zalewski , Lukasz1 Show affiliations 1. Queen Mary University of London. Apocrita - High Performance Computing Cluster for Queen Mary University of London."},{"key":"2024071008300486000_2023.07.03.23292162v2.56","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1093\/brain\/awad436","article-title":"Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease","volume":"147","year":"2024","journal-title":"Brain"},{"key":"2024071008300486000_2023.07.03.23292162v2.57","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03205-y"},{"key":"2024071008300486000_2023.07.03.23292162v2.58","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.09.004"},{"key":"2024071008300486000_2023.07.03.23292162v2.59","doi-asserted-by":"crossref","unstructured":"Chang, C. C. et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015).","DOI":"10.1186\/s13742-015-0047-8"},{"key":"2024071008300486000_2023.07.03.23292162v2.60","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00462-2"},{"key":"2024071008300486000_2023.07.03.23292162v2.61","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz431"},{"key":"2024071008300486000_2023.07.03.23292162v2.62","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"2024071008300486000_2023.07.03.23292162v2.63","doi-asserted-by":"crossref","unstructured":"Dolzhenko, E. et al. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. Genome Med. 14, 84 (2022).","DOI":"10.1186\/s13073-022-01085-z"},{"key":"2024071008300486000_2023.07.03.23292162v2.64","unstructured":"Estimates of the population for the UK, England and Wales, Scotland and Northern Ireland - Office for National Statistics. https:\/\/onsdigital.github.io\/dp-filter-a-dataset-prototype\/v2\/pop-est-current\/."},{"key":"2024071008300486000_2023.07.03.23292162v2.65","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1001\/jamaneurol.2019.3924","article-title":"Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis","volume":"77","year":"2020","journal-title":"JAMA Neurol"},{"key":"2024071008300486000_2023.07.03.23292162v2.66","unstructured":"Gossye, H. , Engelborghs, S. , Van Broeckhoven, C. & van der Zee, J. C9orf72 Frontotemporal Dementia And\/or Amyotrophic Lateral Sclerosis. (University of Washington, Seattle, 2020)."},{"key":"2024071008300486000_2023.07.03.23292162v2.67","doi-asserted-by":"crossref","first-page":"907122","DOI":"10.3389\/fnagi.2022.907122","article-title":"C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies","volume":"14","year":"2022","journal-title":"Front. Aging Neurosci"},{"issue":"Suppl 1","key":"2024071008300486000_2023.07.03.23292162v2.68","first-page":"S96","article-title":"The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review","volume":"43","year":"2016","journal-title":"Can. J. Neurol. Sci"},{"key":"2024071008300486000_2023.07.03.23292162v2.69","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0009-8"},{"key":"2024071008300486000_2023.07.03.23292162v2.70","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2024071008300486000_2023.07.03.23292162v2.71","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25075"},{"key":"2024071008300486000_2023.07.03.23292162v2.72","doi-asserted-by":"publisher","DOI":"10.1159\/000443738"},{"key":"2024071008300486000_2023.07.03.23292162v2.73","doi-asserted-by":"crossref","unstructured":"Sathe, S. et al. Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington\u2019s Disease. Front. Neurol. 12, 667420 (2021).","DOI":"10.3389\/fneur.2021.667420"},{"key":"2024071008300486000_2023.07.03.23292162v2.74","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30042-5"},{"key":"2024071008300486000_2023.07.03.23292162v2.75","doi-asserted-by":"crossref","unstructured":"De Mattei, F. et al. Epidemiology of Spinocerebellar Ataxias in Europe. Cerebellum (2023).","DOI":"10.1007\/s12311-023-01600-x"},{"key":"2024071008300486000_2023.07.03.23292162v2.76","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1001\/jamaneurol.2017.4778","article-title":"Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1","volume":"75","year":"2018","journal-title":"JAMA Neurol"},{"key":"2024071008300486000_2023.07.03.23292162v2.77","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000524734","article-title":"Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis","volume":"56","year":"2022","journal-title":"Neuroepidemiology"},{"key":"2024071008300486000_2023.07.03.23292162v2.78","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02364-1"},{"key":"2024071008300486000_2023.07.03.23292162v2.79","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00241.x"},{"key":"2024071008300486000_2023.07.03.23292162v2.80","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.4530893\/7"},{"key":"2024071008300486000_2023.07.03.23292162v2.81","unstructured":"EUROSCA. http:\/\/www.eurosca.org\/."},{"key":"2024071008300486000_2023.07.03.23292162v2.82","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1658"},{"key":"2024071008300486000_2023.07.03.23292162v2.83","doi-asserted-by":"publisher","DOI":"10.1159\/000369343"},{"key":"2024071008300486000_2023.07.03.23292162v2.84","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.020"},{"key":"2024071008300486000_2023.07.03.23292162v2.85","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2024071008300486000_2023.07.03.23292162v2.86","unstructured":"Opal, P. & Ashizawa, T. Spinocerebellar Ataxia Type 1. (University of Washington, Seattle, 2023)."},{"key":"2024071008300486000_2023.07.03.23292162v2.87","doi-asserted-by":"crossref","unstructured":"Pulst, S. M. Spinocerebellar Ataxia Type 2. (University of Washington, Seattle, 2019).","DOI":"10.1201\/9781003076933-7"},{"key":"2024071008300486000_2023.07.03.23292162v2.88","unstructured":"La Spada, A. Spinal and Bulbar Muscular Atrophy. in GeneReviews\u00ae (eds. Adam, M. P. et al.) (University of Washington, Seattle, Seattle (WA), 1999)."},{"key":"2024071008300486000_2023.07.03.23292162v2.89","unstructured":"Casey, H. L. & Gomez, C. M. Spinocerebellar Ataxia Type 6. (University of Washington, Seattle, 2019)."},{"key":"2024071008300486000_2023.07.03.23292162v2.90","unstructured":"Caron, N. S. , Wright, G. E. B. & Hayden, M. R. Huntington Disease. (University of Washington, Seattle, 2020)."}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/2023.07.03.23292162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T19:36:33Z","timestamp":1768505793000},"score":1,"resource":{"primary":{"URL":"http:\/\/medrxiv.org\/lookup\/doi\/10.1101\/2023.07.03.23292162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,6]]},"references-count":90,"URL":"https:\/\/doi.org\/10.1101\/2023.07.03.23292162","relation":{"is-preprint-of":[{"id-type":"doi","id":"10.1038\/s41591-024-03190-5","asserted-by":"subject"}]},"subject":[],"published":{"date-parts":[[2023,7,6]]},"subtype":"preprint"}}