De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Issue 9 (13th April 2014)

• Record Type: Journal Article
• Authors: Dobričić, Valerija; Kresojević, Nikola; Westenberger, Ana; Svetel, Marina; Tomić, Aleksandra; Ralić, Vesna; Petrović, Igor; Lukić, Milica Ječmenica; Lohmann, Katja; Novaković, Ivana; Klein, Christine; Kostić, Vladimir S.
• Is Part Of: Movement disorders. Volume 29:Issue 9(2014)
• Page Start: 1190
• Page End: 1193
• Publication Date: 2014-04-13
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25876
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="mds25876-sec-0001" sec-type="section"> <title>Background</title> <p>Mutations in <italic>GNAL</italic> (DYT25) have recently been established as the first confirmed cause of focal or segmental adult‐onset dystonia. Mutation carriers show craniocervical involvement; however, the <italic>GNAL</italic> mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.</p> </sec> <sec id="mds25876-sec-0002" sec-type="section"> <title>Methods</title> <p>The authors used Sanger sequencing to test for changes in the <italic>GNAL</italic> coding or splice‐site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement.</p> </sec> <sec id="mds25876-sec-0003" sec-type="section"> <title>Results</title> <p>One novel likely pathogenic substitution (c.1061T>C; p.Val354Ala) in <italic>GNAL</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.</p> </sec> <sec id="mds25876-sec-0004" sec-type="section"> <title>Conclusions</title> <p>This is the first report of a de novo <italic>GNAL</italic> mutation causing genetically proven, seemingly sporadic DYT25 dystonia. Our finding highlights the importance of genetic testing for <italic>GNAL</italic> mutations in establishing the molecular diagnosis even for patients with a negative family history. © 2014 International Parkinson and Movement Disorder Society © 2014 International Parkinson and Movement Disorder Society</p> </sec> </abstract>