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Salles PA, Mata IF, Brünger T, et al. ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum. Front Neurol. 2021;12:637890doi: 10.3389/fneur.2021.637890.
Salles, P. A., Mata, I. F., Brünger, T., Lal, D., & Fernandez, H. H. (2021). ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum. Frontiers in neurology, 12637890. https://doi.org/10.3389/fneur.2021.637890
Salles, Philippe A, et al. "ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum." Frontiers in neurology vol. 12 (2021): 637890. doi: https://doi.org/10.3389/fneur.2021.637890
Salles PA, Mata IF, Brünger T, Lal D, Fernandez HH. ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum. Front Neurol. 2021 Apr 01;12:637890. doi: 10.3389/fneur.2021.637890. eCollection 2021. PMID: 33868146; PMCID: PMC8047318.
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Front Neurol. 2021 Apr 01;12:637890. doi: 10.3389/fneur.2021.637890. eCollection 2021.

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Frontiers in neurology

Philippe A Salles, Ignacio F Mata, Tobias Brünger, Dennis Lal, Hubert H Fernandez

Affiliations

  1. Department of Neurology and Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States.
  2. Centro de Trastornos del Movimiento, Centro de Trastornos del Movimiento (CETRAM), Santiago, Chile.
  3. Cleveland Clinic Foundation, Genomic Medicine, Lerner Research Institute, Cleveland, OH, United States.
  4. Cologne Center for Genomics, University Cologne, Cologne, Germany.

PMID: 33868146 PMCID: PMC8047318 DOI: 10.3389/fneur.2021.637890

Abstract

The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system. This isoform is encoded by the ATP1A3 gene. Pathogenic variants in this gene have been implicated in several phenotypes in the last decades. Carriers of pathogenic variants in this gene manifest neurological and non-neurological features in many combinations, usually with an acute onset and paroxysmal episodes triggered by fever or other factors. The first three syndromes described were: (1) rapid-onset dystonia parkinsonism; (2) alternating hemiplegia of childhood; and, (3) cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). Since their original description, an expanding number of cases presenting with atypical and overlapping features have been reported. Because of this, ATP1A3-disorders are now beginning to be viewed as a phenotypic continuum representing discrete expressions along a broadly heterogeneous clinical spectrum.

Copyright © 2021 Salles, Mata, Brünger, Lal and Fernandez.

Keywords: ATP1A3; CAPOS syndrome; Dyt12; alternating hemiplegia; ataxia; rapid-onset dystonia parkinsonism; sodium-potassium-exchanging ATPase

Conflict of interest statement

IM and HF Grants/Research Support. IM has received research support from American Parkinson's Disease Association, Parkinson's Foundation, Michael J. Fox Foundation and NIH/NINDS. IF has received rese

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