{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:43:43Z","timestamp":1782359023886,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:00:00Z","timestamp":1733702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S006753\/1"],"award-info":[{"award-number":["MR\/S006753\/1"]}],"id":[{"id":"10.13039\/501100000265","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":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A CAG repeat expansion in <jats:italic>THAP11<\/jats:italic> was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100\u2009units, with CAA sequence interruptions in the 5\u2032 region and an uninterrupted CAG tract in the 3\u2032 tail.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Here, we assess the population distribution of the <jats:italic>THAP11<\/jats:italic> repeat, and its contribution to neurological diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We interrogated data from 54,788 individuals from Genomics England, 10,686 patients from the UCL Queen Square Institute of Neurology in\u2010house database (UCL IoN), and 424,340 individuals from the UK Biobank.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified expanded repeats in four individuals with learning difficulties without ataxia and in three individuals in UK Biobank, one with hereditary ataxia, one with hereditary neuropathy, and one with neurodegenerative disease. We showed a linear relationship between the number of\u00a0CAA interruptions and overall repeat length.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results indicate that <jats:italic>THAP11<\/jats:italic> expansions are rare in the British population and that sequence structures predisposed to expansions may be more common in non\u2010British ancestries. \u00a9 2024 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30073","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T08:34:12Z","timestamp":1733733252000},"page":"561-566","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Population\u2010Wide Exploration of the <scp><i>THAP11<\/i> CAG<\/scp> Repeat Size and Structure in the 100,000 Genomes Project and <scp>UK<\/scp> Biobank"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9207-5239","authenticated-orcid":false,"given":"Chris","family":"Clarkson","sequence":"first","affiliation":[{"name":"Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry Queen Mary University of London  London UK"},{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6668-7202","authenticated-orcid":false,"given":"Zhongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neuroscience UCL Queen Square Institute of Neurology  London UK"},{"name":"The Francis Crick Institute  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarissa","family":"Rocca","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bharati","family":"Jadhav","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Iba\u00f1ez","sequence":"additional","affiliation":[{"name":"Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry Queen Mary University of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Ryten","sequence":"additional","affiliation":[{"name":"UK Dementia Research Institute at Cambridge University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Sharp","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Tucci","sequence":"additional","affiliation":[{"name":"Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry Queen Mary University of London  London UK"},{"name":"Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology  London 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Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.30073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:21:23Z","timestamp":1760952083000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.30073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,9]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/mds.30073"],"URL":"https:\/\/doi.org\/10.1002\/mds.30073","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,9]]},"assertion":[{"value":"2024-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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