Centromedian-parafascicular complex deep brain stimulation improves motor symptoms in rapid onset Dystonia ‐Parkinsonism (DYT12-ATP1A3)

Rapid-onset dystonia-parkinsonism, also called DYT12, is a very damaging genetic dystonia, characterized by a rostro-caudal dystonia pattern with prominent bulbar symptoms, sometimes accompanied by parkinsonism symptoms, which has been reported to be caused by aberrant mutations in ATP1A3 [1]. To date, there has been no effective treatment for this disease. Deep-brain stimulation (DBS) has been shown to be an effective treatment option for dystonia; however, in the case of DYT12 dystonia, although some centers have tried different stimulation targets, including the globus pallidus internus (GPi) [2,3], subthalamic nucleus (STN) [4], caudal zona incerta (cZI) [3] and nucleus ventralis oralis posterior (VOP) [3], as well as upfront target combinatorial therapy, all results have been reported to be negative with a failure to respond to DBS treatment.
Source: BRAIN STIMULATION: Basic, Translational, and Clinical Research in Neuromodulation - Category: Neurology Authors: Source Type: research