Distinct neurological disorders with ATP1A3 mutations

Erin L. Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J. Clapcote, Fiorella Gurrieri, David B. Goldstein, Sigurdur H. Jóhannesson, Mohamad A. Mikati, Brian Neville, Sophie Nicole, Laurie J. Ozelius, Hanne Poulsen, Tsveta Schyns, Kathleen J. Sweadner, Arn van den Maagdenberg, Bente Vilsen

Research output: Contribution to journalReview articlepeer-review

166 Scopus citations


Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na+/K+-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na+/K+-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.

Original languageEnglish (US)
Pages (from-to)503-514
Number of pages12
JournalThe Lancet Neurology
Issue number5
StatePublished - May 2014
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Distinct neurological disorders with ATP1A3 mutations'. Together they form a unique fingerprint.

Cite this