Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
Keywords: adenylate cyclase 5 (ADCY5) mutations; alternating hemiplegia of childhood (AHC); case report; chorea; pediatric movement disorder.
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