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 article

110 Citations (Scopus)

Abstract

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
Volume13
Issue number5
DOIs
StatePublished - May 2014
Externally publishedYes

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Nervous System Diseases
Mutation
Genetic Research
Neurologic Manifestations
Genes
Animal Models
Research Personnel
Brain
Proteins

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Heinzen, E. L., Arzimanoglou, A., Brashear, A., Clapcote, S. J., Gurrieri, F., Goldstein, D. B., ... Vilsen, B. (2014). Distinct neurological disorders with ATP1A3 mutations. The Lancet Neurology, 13(5), 503-514. https://doi.org/10.1016/S1474-4422(14)70011-0

Distinct neurological disorders with ATP1A3 mutations. / Heinzen, Erin L.; Arzimanoglou, Alexis; Brashear, Allison; Clapcote, Steven J.; Gurrieri, Fiorella; Goldstein, David B.; Jóhannesson, Sigurdur H.; Mikati, Mohamad A.; Neville, Brian; Nicole, Sophie; Ozelius, Laurie J.; Poulsen, Hanne; Schyns, Tsveta; Sweadner, Kathleen J.; van den Maagdenberg, Arn; Vilsen, Bente.

In: The Lancet Neurology, Vol. 13, No. 5, 05.2014, p. 503-514.

Research output: Contribution to journalReview article

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 2014, 'Distinct neurological disorders with ATP1A3 mutations', The Lancet Neurology, vol. 13, no. 5, pp. 503-514. https://doi.org/10.1016/S1474-4422(14)70011-0
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB et al. Distinct neurological disorders with ATP1A3 mutations. The Lancet Neurology. 2014 May;13(5):503-514. https://doi.org/10.1016/S1474-4422(14)70011-0
Heinzen, Erin L. ; Arzimanoglou, Alexis ; Brashear, Allison ; Clapcote, Steven J. ; Gurrieri, Fiorella ; Goldstein, David B. ; Jóhannesson, Sigurdur H. ; Mikati, Mohamad A. ; Neville, Brian ; Nicole, Sophie ; Ozelius, Laurie J. ; Poulsen, Hanne ; Schyns, Tsveta ; Sweadner, Kathleen J. ; van den Maagdenberg, Arn ; Vilsen, Bente. / Distinct neurological disorders with ATP1A3 mutations. In: The Lancet Neurology. 2014 ; Vol. 13, No. 5. pp. 503-514.
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