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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

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.

SUBMITTER: Termsarasab P

PROVIDER: S-EPMC4578012 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Termsarasab Pichet P Yang Amy C AC Frucht Steven J SJ

Tremor and other hyperkinetic movements (New York, N.Y.) 20150916

<h4>Background</h4>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).<h4>Case report</h4>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 paroxys ...[more]

PMID: 26417536

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