Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.

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

Tremor and other hyperkinetic movements (New York, N.Y.) 2023

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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. 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. 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. Copyright: © 2023 The Author(s).

Citation

Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza. Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa. Tremor and other hyperkinetic movements (New York, N.Y.). 2023;13:11