{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:27:22Z","timestamp":1761823642275,"version":"build-2065373602"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,4,13]],"date-time":"2014-04-13T00:00:00Z","timestamp":1397347200000},"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":[[2014,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in <jats:italic>GNAL<\/jats:italic> (DYT25) have recently been established as the first confirmed cause of focal or segmental adult\u2010onset dystonia. Mutation carriers show craniocervical involvement; however, the <jats:italic>GNAL<\/jats:italic> mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The authors used Sanger sequencing to test for changes in the <jats:italic>GNAL<\/jats:italic> coding or splice\u2010site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One novel likely pathogenic substitution (c.1061T&gt;C; p.Val354Ala) in <jats:italic>GNAL<\/jats:italic> was detected in a sporadic cervical dystonia patient (mutation frequency: 0.4%). This mutation was not present in the DNA of either parent, despite confirmed parentage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report of a de novo <jats:italic>GNAL<\/jats:italic> mutation causing genetically proven, seemingly sporadic DYT25 dystonia. Our finding highlights the importance of genetic testing for <jats:italic>GNAL<\/jats:italic> mutations in establishing the molecular diagnosis even for patients with a negative family history. \u00a9 2014 International Parkinson and Movement Disorder Society \u00a9 2014 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25876","type":"journal-article","created":{"date-parts":[[2014,4,13]],"date-time":"2014-04-13T20:20:46Z","timestamp":1397420446000},"page":"1190-1193","source":"Crossref","is-referenced-by-count":15,"title":["De novo mutation in the <i>GNAL<\/i> gene causing seemingly sporadic dystonia in a Serbian patient"],"prefix":"10.1002","volume":"29","author":[{"given":"Valerija","family":"Dobri\u010di\u0107","sequence":"first","affiliation":[{"name":"Neurology Clinic CCS School of Medicine, University of Belgrade Belgrade Serbia"},{"name":"Institute of Neurogenetics, University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikola","family":"Kresojevi\u0107","sequence":"additional","affiliation":[{"name":"Neurology Clinic CCS School of Medicine, University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Svetel","sequence":"additional","affiliation":[{"name":"Neurology Clinic CCS School of Medicine, University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Tomi\u0107","sequence":"additional","affiliation":[{"name":"Neurology Clinic CCS School of Medicine, University of Belgrade Belgrade 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