{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T14:24:53Z","timestamp":1783607093326,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,12,27]],"date-time":"2014-12-27T00:00:00Z","timestamp":1419638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base\u2010pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We applied single\u2010nucleotide polymorphism (SNP) genotyping to determine whether structural variation causes spinocerebellar ataxia in a family from France.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified an approximately 7.5\u2010megabasepair duplication on chromosome 11q21\u201011q22.3 that segregates with disease. This duplication contains an estimated 44 genes. Duplications at this locus were not found in control individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have identified a new spastic ataxia syndrome caused by a genomic duplication, which we have denoted as spinocerebellar ataxia type 39. Finding additional families with this phenotype will be important to identify the genetic lesion underlying disease. \u00a9 2014 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26059","type":"journal-article","created":{"date-parts":[[2014,12,27]],"date-time":"2014-12-27T11:33:14Z","timestamp":1419679994000},"page":"262-266","source":"Crossref","is-referenced-by-count":15,"title":["A 7.5\u2010Mb duplication at chromosome 11q21\u201011q22.3 is associated with a novel spastic ataxia syndrome"],"prefix":"10.1002","volume":"30","author":[{"given":"Janel O.","family":"Johnson","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"},{"name":"Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London Queen Square London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[{"name":"INSERM, U1127 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 6 UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Paris France"},{"name":"CNRS, UMR7225 Paris France"},{"name":"Ecole Pratique des Hautes Etudes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce","family":"van de Leemput","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"},{"name":"Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London Queen Square London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dena G.","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"},{"name":"Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London Queen Square London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sampath","family":"Arepalli","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Forlani","sequence":"additional","affiliation":[{"name":"INSERM, U1127 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 6 UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Paris France"},{"name":"CNRS, UMR7225 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Zonozi","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Raphael","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"},{"name":"Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London Queen Square London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"INSERM, U1127 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 6 UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Paris France"},{"name":"CNRS, UMR7225 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"INSERM, U1127 Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 6 UMR_S1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Paris France"},{"name":"CNRS, UMR7225 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B.","family":"Singleton","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,12,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R800067200"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00234-X"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0020150"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn283"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030108"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl436"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.487"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22537"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60249-X"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1718"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1090278"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.02.008"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000274491"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1299787"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12355"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26059","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26059","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.26059","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:13:36Z","timestamp":1760962416000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.26059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,27]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1002\/mds.26059"],"URL":"https:\/\/doi.org\/10.1002\/mds.26059","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,27]]}}}