Журнал клинических случаев

Recurrent Familiar Ataxic Syndrome in a 2-Years-Old Child Affected by ATP1A3 Mutation: A Case Report

Abstract

Rapaccini V, Pasini A, Nunziata L, Pitzianti M and Miconi F

ATP1A3 mutations have been recognized in children with different neurological phenotypes. We describe a patient with a diagnosis of ATP1A3 mutation inherited from his mother. The ataxic syndrome occurred at 18 months with cerebellar symptoms and psychomotor regression, after an infectious episode. The same clinical manifestations were found in his mother. This is the first case of a subject under 2-years-old with ataxic syndrome and ATP1A3 mutation inherited from his mother affected by the same cerebellar manifestations.