Details

Autor(en) / Beteiligte

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

Titel

Distinct neurological disorders with ATP1A3 mutations

Ist Teil von

• Lancet neurology, 2014-05, Vol.13 (5), p.503-514

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2014

Quelle

ScienceDirect

Beschreibungen/Notizen

• Summary 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.