{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T20:05:22Z","timestamp":1778011522267,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T00:00:00Z","timestamp":1604707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["CIHR; FRN 159279"],"award-info":[{"award-number":["CIHR; FRN 159279"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed an in\u2010silico analysis of CAG repeats in <jats:italic>ATXN1<\/jats:italic>, <jats:italic>ATXN2<\/jats:italic>, <jats:italic>ATXN3<\/jats:italic>, and <jats:italic>HTT<\/jats:italic> using 30\u00d7 whole\u2010=genome sequencing data of 2504 samples from the 1000 Genomes Project.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven <jats:italic>HTT<\/jats:italic>\u2010positive, 3 <jats:italic>ATXN2<\/jats:italic>\u2010positive, 1 <jats:italic>ATXN3<\/jats:italic>\u2010positive, and 6 possibly <jats:italic>ATXN1<\/jats:italic>\u2010positive samples were identified. No correlation was found between the repeat sizes of the different genes. The distribution of CAG alleles varied by ethnicity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results suggest that there may be asymptomatic small expanded repeats in almost 0.5% of these populations. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28341","type":"journal-article","created":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T12:18:01Z","timestamp":1604751481000},"page":"514-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Expanded <scp>CAG<\/scp> Repeats in <scp><i>ATXN1<\/i><\/scp>, <scp><i>ATXN2<\/i><\/scp>, <scp><i>ATXN3<\/i><\/scp>, and <scp><i>HTT<\/i><\/scp> in the 1000 Genomes Project"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0931-5247","authenticated-orcid":false,"given":"Fulya","family":"Ak\u00e7imen","sequence":"first","affiliation":[{"name":"Department of Human Genetics McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8183-2524","authenticated-orcid":false,"given":"Jay P.","family":"Ross","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6169-7137","authenticated-orcid":false,"given":"Calwing","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Spiegelman","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick A.","family":"Dion","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8403-1418","authenticated-orcid":false,"given":"Guy A.","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1686"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200788"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.4.569"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-35"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz836"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15394"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz431"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-24277-4"},{"key":"e_1_2_7_14_1","volume-title":"Huntington's Disease. 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