Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa

Luiz Felipe Vasconcellos; Vinicius Pinheiro Soares; Lucas Leroux de Ricchezza

doi:10.5334/tohm.746

Abstract

Background: Cerebral palsy (CP) should not be considered a diagnosis, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury.

Case report: 24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia.

Discussion: GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.

References

1Pearson TS, Pons R, Ghaoui R, Sue CM. Genetic Mimics of Cerebral Palsy. Mov Disord. 2019; 34(5): 625–636. DOI: 10.1002/mds.27655
Back to article
2Feng H, Khalil S, Neubig RR, Sidiropoulosb C. A mechanistic review on GNAO1-associated movement disorder. Neurobiology of Disease. 2018; 116: 131–141. DOI: 10.1016/j.nbd.2018.05.005
Back to article
3Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, et al. Highlighting the dystonic phenotype related to GNAO1. Mov. Disord. 2022; 37(7): 1547–1554. DOI: 10.1002/mds.29074
Back to article
4Yang X, Niu X, Yang Y, Cheng M, Zhang J, Chen J, Yang Z and Zhang Y. Phenotypes of GNAO1 Variants in a Chinese Cohort. Front. Neurol. 2021; 12: 662162. DOI: 10.3389/fneur.2021.662162
Back to article
5Feng H, Sjögren B, Karaj B, Shaw V, Gezer A, Neubig R. Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. Neurology. 2017; 89(8): 762–770. DOI: 10.1212/WNL.0000000000004262
Back to article
6Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, et al. Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review. Parkinsonism Relat Disord. 2019; 61: 19–25. DOI: 10.1016/j.parkreldis.2018.11.019
Back to article
7Danhofer P, Zech M, Bálintová Z, Baláž M, Jech R, Ošlejšková H. Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation. Mov Disord Clin Pract. 2021; 8(1): 153–155. DOI: 10.1002/mdc3.13118
Back to article
8Malaquias MJ, Fineza I, Loureiro L, Cardoso L, Alonso I, Magalhães M. GNAO1 mutation presenting as dyskinetic cerebral palsy. Neurol Sci. 2019; 40(10): 2213–2216. DOI: 10.1007/s10072-019-03964-7
Back to article

Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa

Abstract

Paradigm

My account