{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:12:47Z","timestamp":1793157167405,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,4,19]],"date-time":"2012-04-19T00:00:00Z","timestamp":1334793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> Chromosome microarray (CMA) can determine copy number variants such as microdeletions or microduplications. Microdeletions of movement disorder genes including epsilon\u2010sarcoglycan (<jats:italic>SGCE<\/jats:italic>) and thyroid transcription factor\u20101 (<jats:italic>TITF1<\/jats:italic>) have been described in patients with myoclonus dystonia and benign hereditary chorea respectively. We examined whether CMA is a valuable tool in the investigation of children with suspected genetic movement disorders.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> A genetic movement disorder was suspected if there was a positive first\u2010degree family history, or two or more of the following factors: normal or near\u2010normal magnetic resonance imaging, negative history of brain injury, and negative investigations for metabolic disorders. Tic disorders were excluded. Twenty\u2010five patients (18 males, seven females) with a mean age at movement disorder onset of 4\u2003years 5\u2003month (range 1mo\u201314y) were prospectively recruited with the following primary movement disorders: dystonia (<jats:italic>n=<\/jats:italic>10), paroxysmal kinesigenic dyskinesia (<jats:italic>n=<\/jats:italic>5), tremor (<jats:italic>n=<\/jats:italic>4), chorea (<jats:italic>n=<\/jats:italic>3), myoclonus (<jats:italic>n=<\/jats:italic>2), and paroxysmal non\u2010kinesigenic dyskinesia (<jats:italic>n=<\/jats:italic>1). Comorbid associated features were common, particularly developmental delay or intellectual disability (19 out of 25) and attention\u2010deficit\u2013hyperactivity disorder (six out of 25). CMA was performed using Agilent aCGH 60K array.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Seven out of twenty\u2010five patients had a microdeletion determined by CMA. None of the microdeletions were considered benign variants. Four patients had a deletion of a known movement disorder gene including paroxysmal kinesigenic dyskinesia (<jats:italic>PRRT2<\/jats:italic>; <jats:italic>n=<\/jats:italic>2), <jats:italic>SGCE<\/jats:italic> (myoclonus dystonia, <jats:italic>n=<\/jats:italic>1), and <jats:italic>TITF1<\/jats:italic> (benign hereditary chorea, <jats:italic>n=<\/jats:italic>1). Three patients had novel microdeletions of unknown but potential significance including 14q13.3 (chorea, <jats:italic>n=<\/jats:italic>1), 19p13.12 (tremor, <jats:italic>n=<\/jats:italic>1), and 19q13.12 (progressive dystonia). All seven patients had associated neurodevelopmental or behavioural problems.<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold> Assays that determine copy number variants may be a valuable first\u2010tier investigation in patients with suspected genetic movement disorders, particularly when associated with intellectual disability or developmental disorders. Microdeletion syndromes may help the search for new movement disorder genes.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04287.x","type":"journal-article","created":{"date-parts":[[2012,4,19]],"date-time":"2012-04-19T12:50:42Z","timestamp":1334839842000},"page":"618-623","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":75,"title":["Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single\u2010centre study"],"prefix":"10.1111","volume":"54","author":[{"given":"RUSSELL C","family":"DALE","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PADRAIC","family":"GRATTAN\u2010SMITH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MICHELLE","family":"NICHOLSON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GREG B","family":"PETERS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,19]]},"reference":[{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075974"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9521"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21135"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp172"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23639"},{"key":"e_1_2_9_8_2","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"American Psychiatric Association","year":"1994"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0116-7"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823152d7"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1008"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.115"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822c79f9"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822272ac"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/522591"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b16393"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-009-9037-4"},{"key":"e_1_2_9_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073015"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04287.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04287.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T01:04:33Z","timestamp":1698714273000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04287.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,19]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04287.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04287.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,19]]},"assertion":[{"value":"2012-04-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}