Article
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
Acta neuropathologica - 1 Jul 2014
Oblak Adrian L, Hagen Matthew C, Sweadner Kathleen J, Haq Ihtsham, Whitlow Christopher T, Maldjian Joseph A, Epperson Francine, Cook Jared F, Stacy Mark, Murrell Jill R, Ozelius Laurie J, Brashear Allison, Ghetti Bernardino
Abstract excerpt
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...
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