{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:05:49Z","timestamp":1789704349431,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 microdeletion, highlight key gaps, and provide recommendations for future research.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a comprehensive search of MEDLINE, Embase, CENTRAL, and reference lists to identify relevant clinical and preclinical studies, and summarize data on clinico\u2010pathologic features, risk factors, and pathophysiology of movement disorders associated with molecularly defined 22q11.2 microdeletions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Forty\u2010three (clinical: n\u2009=\u200941\/43, 95%; preclinical: n\u2009=\u20092\/43, 5%) studies met eligibility criteria. Most clinical studies (35\/41, 85%) involved adults, of which 51% (21\/41) were case series\/reports, and the remainder observational studies. Key findings included: (1) emphasis on parkinsonism but emerging evidence for multiple other motor phenotypes, (2) non\u2010specific findings on routine neuroimaging, albeit with promising early results of certain modalities (eg, volumetric analyses, molecular imaging) and fluid\u2010based biomarkers, particularly for parkinsonism, and (3) multifaceted etiologic and pathophysiologic processes beyond those attributable to medication side effects. Prevailing gaps include research design limitations, heterogeneity of diagnostic methods, and limited systematic data on etiopathogenesis and treatments.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Current evidence supports an expanding spectrum of motor phenotypes associated with 22q11.2 microdeletion, with emerging data reporting potentially useful clinical markers and non\u2010drug\u2010related risk modifiers and underlying mechanisms. Addressing prevailing gaps will require enhanced research designs with up\u2010to\u2010date diagnostic and genetic methodologies, robust preclinical models, and cross\u2010disciplinary collaborations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70459","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T10:21:33Z","timestamp":1764757293000},"page":"1399-1417","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review"],"prefix":"10.1002","volume":"13","author":[{"given":"Nikolai Gil D.","family":"Reyes","sequence":"first","affiliation":[{"name":"Institute of Medical Science, Temerty Faculty of Medicine University of Toronto  Toronto Ontario Canada"},{"name":"Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital  Toronto Ontario Canada"},{"name":"Dalglish Family 22q Clinic Toronto General Hospital  Toronto Ontario Canada"},{"name":"Clinical Genetics Research Program Centre for Addiction &amp; Mental Health  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Di Luca","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital  Toronto Ontario Canada"},{"name":"Department of Neurology Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Marras","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Boot","sequence":"additional","affiliation":[{"name":"Dalglish Family 22q Clinic Toronto General Hospital  Toronto Ontario Canada"},{"name":"Advisium's Heeren Loo Zorggroep  Amersfoort The Netherlands"},{"name":"Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeN)s Maastricht University  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan K.C.","family":"Yuen","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital  Toronto Ontario Canada"},{"name":"Krembil Research Institute Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"Institute of Medical Science, Temerty Faculty of Medicine University of Toronto  Toronto Ontario Canada"},{"name":"Dalglish Family 22q Clinic Toronto General Hospital  Toronto Ontario Canada"},{"name":"Clinical Genetics Research Program Centre for Addiction &amp; Mental Health  Toronto Ontario Canada"},{"name":"Department of Psychiatry University of Toronto, Toronto General Hospital Research Institute, and Campbell Family Mental Health Research Institute  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.9778\/cmajo.20200294"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12687"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2215-0366(19)30076-8"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.70256"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13577"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28663"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2022.03.004"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.7326\/m18-0850"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/1364557032000119616"},{"key":"e_1_2_9_12_1","unstructured":"Innovation VH.Covidence systematic review software Melbourne Australia 2025; 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