{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:24:30Z","timestamp":1790778270963,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008211","name":"Association France Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008211","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006424","name":"FRC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006424","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004431","name":"Fondation de France","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004431","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Foundation for Medical Research","doi-asserted-by":"publisher","award":["MND202004011718"],"award-info":[{"award-number":["MND202004011718"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>CAG\u2010repeat expansions in <jats:italic>Ataxin 2<\/jats:italic> (<jats:italic>ATXN2<\/jats:italic>) are known to cause spinocerebellar ataxia type 2 (SCA2), but CAA interrupted expansions may also result in autosomal dominant Parkinson's disease (AD PD). However, because of technical limitations, such expansions are not explored in whole exome sequencing (WES) data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify <jats:italic>ATXN2<\/jats:italic> expansions using WES data from PD cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We explored WES data from a cohort of 477 index cases with PD using ExpansionHunter (Illumina DRAGEN Bio\u2010IT Platform, San Diego, CA). Putative expansions were confirmed by combining polymerase chain reaction and fragment length analysis followed by sub\u2010cloning and sequencing methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Using ExpansionHunter, we identified three patients from two families with AD PD carrying either <jats:italic>ATXN2<\/jats:italic> 22\/39 or 22\/37 repeats, both interrupted by four CAA repeats.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings demonstrate the usefulness of WES to detect pathogenic CAG repeat expansions, which were found in 1.7% of AD PD in the <jats:italic>ATXN2<\/jats:italic> gene in our exome dataset.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13699","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T05:34:32Z","timestamp":1676439272000},"page":"664-669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Detection of <i>ATXN2<\/i> Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1196-2243","authenticated-orcid":false,"given":"Fanny","family":"Casse","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau \u2010 Paris Brain Institute \u2013 ICM, Institut National de la Recherche M\u00e9dicale\u2010U1127, Centre National de la Recherche Scientifique\u2010UMR7225  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Courtin","sequence":"additional","affiliation":[{"name":"Sorbonne 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