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ATP1A3-related disorders: An update.

Miryam Carecchio1, Giovanna Zorzi2, Francesca Ragona2

  • 1Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20131 Milan, Italy; Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo 4, 20126 Milan, Italy; Department of Medicine and Surgery, PhD Programme in Molecular and Translational Medicine, Milan Bicocca University, Via Cadore 48, 20900 Monza, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|January 3, 2018
PubMed
Summary

Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP), and CAPOS syndrome are linked to ATP1A3 gene mutations. Recognizing shared clinical features aids in identifying patients with these rare neurological disorders.

Keywords:
ATP1A3DystoniaGeneticsMovement disordersParkinsonism

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP), and CAPOS syndrome are distinct neurological disorders.
  • These conditions have been historically considered allelic, suggesting a common genetic basis.

Purpose of the Study:

  • To review the clinical and genetic characteristics of ATP1A3-related disorders.
  • To highlight shared and distinct features for improved clinical identification of mutation carriers.

Main Methods:

  • Review of scientific literature from 2004-2012 focusing on ATP1A3 mutations.
  • Analysis of clinical phenotypes associated with identified mutations.

Main Results:

  • Autosomal dominant and de novo mutations in ATP1A3 are associated with AHC, RDP, and CAPOS syndrome.
  • These disorders represent a spectrum with shared features like abrupt onset and triggering factors, indicative of ATP1A3 mutations.

Conclusions:

  • ATP1A3 mutations are central to a spectrum of neurological disorders including AHC, RDP, and CAPOS.
  • Understanding shared and distinct clinical presentations is crucial for diagnosing ATP1A3-related conditions.