Highlighting the Dystonic Phenotype Related to GNAO1

• Published in: Movement disorders Vol. 37; no. 7; pp. 1547 - 1554
• Main Authors: Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.07.2022; Wiley Subscription Services, Inc; Wiley
• Subjects: Basal ganglia; Central nervous system diseases; Chorea; Dystonia; Dystonia - genetics; Dystonic Disorders; Dystonic Disorders - genetics; Encephalopathy; Epilepsy; Genetics; Genotype & phenotype; GNAO1; GTP-Binding Protein alpha Subunits, Gi-Go - genetics; GTP-Blinding Protein alpha Subinits, Gi-Go; Humans; Intellectual disabilities; Life Sciences; Movement Disorders; Movement Disorders - genetics; mutation; Myoclonus; Neurons and Cognition; Parkinsonian Disorders; Parkinsonian Disorders - genetics; Patients; Phenotype; Phenotypes; GNAO1; mutation; phenotypes; dystonia; Phenotypes; Mutation; Dystonia
• ISSN: 0885-3185; 1531-8257; 1531-8257
• DOI: 10.1002/mds.29074

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim was to characterize the clinical and genetic features of patients with mild GNAO1‐related phenotype with prominent movement disorders. Methods We included patients diagnosed with GNAO1‐related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early‐onset epileptic encephalopathy were excluded. Results Twenty‐four 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‐onset 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. Conclusion We highlighted a mild GNAO1‐related phenotype, including adolescent‐onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society