Distinct neurological disorders with ATP1A3 mutations

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  • Erin L Heinzen, Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA. Electronic address: e.heinzen@duke.edu., Denmark
  • Alexis Arzimanoglou, Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France., Denmark
  • Allison Brashear, Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC, USA., Denmark
  • Steven J Clapcote, School of Biomedical Sciences, University of Leeds, Leeds, UK.
  • ,
  • Fiorella Gurrieri, Istituto di Genetica Medica, Università Cattolica S Cuore, Rome, Italy., Denmark
  • David B Goldstein, Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC, USA.
  • ,
  • Sigurður H Jóhannesson, AHC Federation of Europe and AHC Association of Iceland, Reykjavik, Iceland., Denmark
  • Mohamad A Mikati, Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA., Denmark
  • Brian Neville, Institute of Child Health, University College London, London, UK., Denmark
  • Sophie Nicole, Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, Paris, France., Denmark
  • Laurie J Ozelius, Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Denmark
  • Hanne Poulsen
  • Tsveta Schyns, European Network for Research on Alternating Hemiplegia (ENRAH), Brussels, Belgium., Denmark
  • Kathleen J Sweadner, Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
  • ,
  • Arn van den Maagdenberg, Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands., Denmark
  • Bente Vilsen
  • for the ATP1A3 Working Group:

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
JournalLancet Neurology
Volume13
Issue5
Pages (from-to)503-514
Number of pages12
ISSN1474-4422
DOIs
Publication statusPublished - May 2014

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