Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations. (16th September 2015)

• Record Type: Journal Article
• Authors: Termsarasab, Pichet; Yang, Amy C.; Frucht, Steven J.
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 5(2015)
• Publication Date: 2015-09-16
• Subjects: ATP1A3 -- rapid-onset dystonia–parkinsonism -- dystonia -- parkinsonism; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D8MG7NS8
• Languages: English
• ISSNs: 2160-8288

Abstract

Background: ATP1A3 -related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). Case Report: We report two cases with intermediate forms between RDP and AHC. Patient 1 initially presented with the AHC phenotype, but the RDP phenotype emerged at age 14 years. The second patient presented with levodopa-responsive paroxysmal oculogyria, a finding never before reported in ATP1A3 -related disorders. Genetic testing confirmed heterozygous changes in the ATP1A3 gene in both patients, one of them novel. Discussion: Intermediate phenotypes of RDP and AHC support the concept that these two disorders are part of a spectrum. We add our cases to the phenotype–genotype correlations of ATP1A3 -related disorders.