Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

@inproceedings{Oblak2014RapidonsetDA,
  title={Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings},
  author={Adrian L. Oblak and Matthew C. Hagen and Kathleen J Sweadner and Ihtsham Haq and Christopher T. Whitlow and Joseph A. Maldjian and Francine Epperson and Jared F. Cook and Mark Stacy and J Bakker EP Jurasek L Murray RGE Tempest DW Baldwin Murrell and Laurie Ozelius and Allison Brashear and Bernardino Ghetti},
  booktitle={Acta Neuropathologica},
  year={2014}
}
Rapid-onset dystonia-parkinsonism (RDP) is a movement disorder associated with mutations in the ATP1A3 gene. Signs and symptoms of RDP commonly occur in adolescence or early adulthood and can be triggered by physical or psychological stress. Mutations in ATP1A3 are also associated with alternating hemiplegia of childhood (AHC). The neuropathologic substrate of these conditions is unknown. The central nervous system of four siblings, three affected by RDP and one asymptomatic, all carrying the… CONTINUE READING
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