Clinical case of GNAO1-associated encephalopathy and hyperkinetic movement disorders
DOI:
https://doi.org/10.67667/NEU.v27i2.223Keywords:
Gene GNAO-1, Deep brain stimulation, hyperkinetic movement disorderAbstract
GNAO1-related hyperkinetic movement disorders include choreoathetoid movement disorders affecting the trunk and limbs, which worsen spontaneously or as a result of an intercurrent infection.
We present a clinical case of a 14-year-old boy who presented with choreoathetosis affecting the head, trunk, and limbs, generalized muscular hypotonia and an acute viral infection. Molecular genetic analysis confirmed a mutation in the GNAO1 gene, c.625C>T p.(Arg209Cys), which is associated with intellectual disability and involuntary hyperkinetic movement disorders. The ethiologic pharmacological treatment did not achieve a satisfactory effect on the observed dyskinesias.
Given the lack of specific medical treatment, deep brain stimulation (DBS) was performed, with implantation of electrodes in the globus pallidus internus (GPi). Following the neurosurgical intervention, the child was conscious, without any neurological deficit, and showed a significant reduction in the existing hyperkinetic movement disorder.
References
1. Ananth, A.L., Robichaux-Viehoever, A., Kim, Y.M., Hanson-Kahn, A., Cox, R., Enns, G.M., Strober, J., Willing, M., Schlaggar, B.L., Wu, Y.W., Bernstein, J.A. Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. Pediatr Neurol. 2016 Jun;59:81-4. doi: 10.1016/j.pediatrneurol.2016.02.018
2. Chowdhury, S., Priya, S., Garg, D., Agarwal, A., Garg, A., Srivastava, A.K. The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia. Mov Disord Clin Pract. 2025 Mar;12(3):383-385. doi: 10.1002/mdc3.14291.
3. Decraene, B., Smeets, S., Remans, D., Ortibus, E., Vandenberghe, W., Nuttin, B., Theys, T., De Vloo, P. Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis. Neuromodulation. 2024 Apr;27(3):440-446. doi: 10.1016/j.neurom.2023.10.187.
4. Dhamija, R., Mink, J.W., Shah, B.B., Goodkin, H.P. GNAO1-Associated Movement Disorder. Mov Disord Clin Pract. 2016 Mar 11;3(6):615-617. doi: 10.1002/mdc3.12344
5. Honey, C.M., Malhotra, A.K., Tarailo-Graovac, M., van Karnebeekc CDM., Horvath, G., Sulistyanto, A. GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue with Pallidal Deep Brain Stimulation. J Child Neurol. 2018 May;33(6):413-416.
6. JoJo Yang QZ, Porter BE, Axeen ET. GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey. Epilepsy Behav Rep. 2022 Dec 31;21:100582. doi: 10.1016/j.ebr.2022.100582.
7. Kim SY, Shim Y, Ko YJ, Park S, Jang SS, Lim BC, Kim KJ, Chae JH. Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis. Orphanet J Rare Dis. 2020 Dec 9;15(1):343. doi: 10.1186/s13023-020-01594-3.
8. Koy, A., Cirak, S., Gonzalez, V., Becker, K., Roujeau, T., Milesi, C., Baleine, J., Cambonie, G., Boularan, A., Greco, F., Perrigault, P.F., Cances, C., Dorison, N., Doummar, D., Roubertie, A., Beroud, C., Körber, F., Stüve, B., Waltz, S., Mignot, C., Nava, C., Maarouf, M., Coubes, P., Cif, L. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J Neurol Sci. 2018;391:31-9.
9. Nakamura, K., Kodera, H., Akita, T., Shiina, M., Kato, M., Hoshino, H., Terashima, H., Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013 Sep 5;93(3):496-505.
10. Waak, M., Mohammad, S.S., Coman, D., Sinclair, K., Copeland, L., Silburn,. P, Coyne, T., McGill, J., O'Regan, M., Selway, R., Symonds, J., Grattan-Smith, P., Lin, J.P., Dale, R.C., Malone, S. GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653.
Downloads
Published
How to Cite
Issue
Section
ARK
License
Copyright (c) 2026 Марина Кръстева
This work is licensed under a Creative Commons Attribution 4.0 International License.
