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ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction

Anna Duat Rodriguez, Michaela Prochazkova, Isabel Perez Sebastian,Veronica Cantarin Extremera,Maria Jimenez Legido, Serafin Rodriguez Palero,Nelmar Valentina Ortiz Cabrera

European Journal of Paediatric Neurology（2021）

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Abstract
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although initially they were considered separate disorders, recent evidence suggests a continuous clinical spectrum of ATP1A3-related disorders.
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Key words
Brainstem dysfunction,Cerebellar dysfunction,ATP1A3,Alternating hemiplegia of childhood,Rapid-onset dystonia-parkinsonism,CAPOS syndrome
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