Objective: To characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.
Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.
Method: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound ID or early onset epileptic encephalopathy, were excluded.
Results: 24 patients and one 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, 3 with myoclonus. Dysarthria was observed in 19 cases. Mild and moderate intellectual disability were present in 10 and 2 cases, respectively.
Conclusion: We highlighted a mild GNAO1-related phenotype including adolescent-onset dystonia, broadening the clinical spectrum of this condition.
To cite this abstract in AMA style:
T. Wirth, G. Garone, M. Kurian, A. Piton, F. Milan, A. Telegrafi, N. Drouot, G. Rudolf, J. Chelly, W. Marks, L. Burglen, D. Demailly, P. Coubes, M. Castro-Jimenez, S. Joriot, J. Ghoumid, J. Belin, J-M. Faucheux, L. Blumkin, M. Hull, M. Parnes, C. Ravelli, A. Nemeth, M. Smith, A. Barnicoat, C. Ewenczyk, A. Méneret, E. Roze, B. Keren, C. Mignot, C. Beroud, F. Acosta, C. Nowak, W. Wilson, D. Steel, A. Capuano, M. Vidailhet, J-P. Lin, C. Tranchant, L. Cif, D. Doummar, M. Anheim. Highlighting the dystonic phenotype related to GNAO1 [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/highlighting-the-dystonic-phenotype-related-to-gnao1/. Accessed June 15, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/highlighting-the-dystonic-phenotype-related-to-gnao1/