{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:01:24Z","timestamp":1790665284351,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T00:00:00Z","timestamp":1655683200000},"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\/501100008211","name":"Association France Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008211","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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most reported patients carrying <jats:italic>GNAO1<\/jats:italic> mutations showed a severe phenotype characterized by early\u2010onset epileptic encephalopathy and\/or chorea.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim was to characterize the clinical and genetic features of patients with mild <jats:italic>GNAO1<\/jats:italic>\u2010related phenotype with prominent movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We included patients diagnosed with <jats:italic>GNAO1<\/jats:italic>\u2010related movement disorders of delayed onset (&gt;2\u2009years). Patients experiencing either severe or profound intellectual disability or early\u2010onset epileptic encephalopathy were excluded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood\u2010onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We highlighted a mild <jats:italic>GNAO1<\/jats:italic>\u2010related phenotype, including adolescent\u2010onset dystonia, broadening the clinical spectrum of this condition. \u00a9 2022 The Authors. <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.29074","type":"journal-article","created":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T04:44:09Z","timestamp":1655700249000},"page":"1547-1554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Highlighting the Dystonic Phenotype Related to 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