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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

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Summary
This summary is machine-generated.

ATP1A3-related disorders, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), may represent a disease spectrum. We present two cases with intermediate phenotypes, expanding genotype-phenotype correlations for ATP1A3 disorders.

Keywords:
ATP1A3dystoniaparkinsonismrapid-onset dystonia–parkinsonism

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Area of Science:

  • Neurogenetics
  • Molecular Neurology

Background:

  • ATP1A3-related disorders encompass rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and CAPOS syndrome.
  • These conditions arise from mutations in the ATP1A3 gene, affecting the sodium-potassium ATPase alpha-3 subunit.

Purpose of the Study:

  • To describe two novel cases exhibiting intermediate phenotypes between RDP and AHC.
  • To contribute to the understanding of the clinical spectrum and genotype-phenotype correlations in ATP1A3-related disorders.

Main Methods:

  • Case report of two patients with ATP1A3-related disorders.
  • Clinical phenotyping including detailed neurological examinations and symptom progression.
  • Genetic testing to identify mutations in the ATP1A3 gene.

Main Results:

  • Patient 1 presented with an initial AHC phenotype, later developing RDP symptoms.
  • Patient 2 exhibited levodopa-responsive paroxysmal oculogyria, a previously unreported symptom.
  • Genetic analysis confirmed heterozygous ATP1A3 gene alterations in both patients, with one novel mutation identified.

Conclusions:

  • The findings support the hypothesis that RDP and AHC are part of a continuous clinical spectrum.
  • These cases expand the known phenotype-genotype correlations for ATP1A3-related neurological disorders.