De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

Valerija Dobričić, Nikola Kresojević, Ana Westenberger, Marina Svetel, Aleksandra Tomić, Vesna Ralić, Igor Petrović, Milica Ječmenica Lukić, Katja Lohmann, Ivana Novaković, Christine Klein*, Vladimir S. Kostić

*Corresponding author for this work
5 Citations (Scopus)


Background: Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established. Methods: The authors used Sanger sequencing to test for changes in the GNAL coding or splice-site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement. Results: One novel likely pathogenic substitution (c.1061T>C; p.Val354Ala) in GNAL 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. Conclusions: This is the first report of a de novo GNAL mutation causing genetically proven, seemingly sporadic DYT25 dystonia. Our finding highlights the importance of genetic testing for GNAL mutations in establishing the molecular diagnosis even for patients with a negative family history.

Original languageEnglish
JournalMovement Disorders
Issue number9
Pages (from-to)1190-1193
Number of pages4
Publication statusPublished - 01.01.2014


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