title: De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
abstract: 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.
authors.affiliation: Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobričić
authors.forename: Nikola
authors.initials: N
authors.lastname: Kresojević
authors.forename: Ana
authors.initials: A
authors.lastname: Westenberger
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Tomić
authors.forename: Vesna
authors.initials: V
authors.lastname: Ralić
authors.forename: Igor
authors.initials: I
authors.lastname: Petrović
authors.forename: Milica Ječmenica
authors.initials: MJ
authors.lastname: Lukić
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
authors.forename: Ivana
authors.initials: I
authors.lastname: Novaković
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D055771:Serbia; D055815:Young Adult
chemical_list: D044385:GTP-Binding Protein alpha Subunits; C084618:olfactory G protein subunit alpha olf
keywords: DYT25; GNAL; de novo mutation; isolated dystonia