Tremor and other hyperkinetic movements (New York, N.Y.) · 2023
Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Vasconcellos Luiz Felipe, Soares Vinicius Pinheiro, de Ricchezza Lucas Leroux
Аннотация
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.
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.