Distinct neurological disorders with ATP1A3 mutations.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Heinzen, EL; Arzimanoglou, A; Brashear, A; Clapcote, SJ; Gurrieri, F; Goldstein, DB; Jóhannesson, SH; Mikati, MA; Neville, B; Nicole, S; Ozelius, LJ; Poulsen, H; Schyns, T; Sweadner, KJ; van den Maagdenberg, A; Vilsen, B; ATP1A3 Working Group,

Published Date

  • May 2014

Published In

Volume / Issue

  • 13 / 5

Start / End Page

  • 503 - 514

PubMed ID

  • 24739246

Pubmed Central ID

  • PMC4238309

Electronic International Standard Serial Number (EISSN)

  • 1474-4465

Digital Object Identifier (DOI)

  • 10.1016/S1474-4422(14)70011-0


  • eng

Conference Location

  • England