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Background Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response of this dystonia subtype to deep brain stimulation (DBS) at the internal globus pallidus (GPi). Methods Retrospective analysis of the medical records of three DYT6 patients who underwent pallidal DBS by one surgical team. The Burke-Fahn-Marsden Dystonia Rating scale served as the primary outcome measure. Comparison is made to 23 patients with DYT1 dystonia also treated with GPi-DBS by the same team. Results In contrast with the DYT1 patients who exhibited a robust and sustained clinical response to DBS, the DYT6 patients exhibited more modest gains during the first 2 years of therapy, and some symptom regression between years 2 and 3 despite adjustments to the stimulation parameters and repositioning of one stimulating lead. Microelectrode recordings made during the DBS procedures demonstrated no differences in the firing patterns of GPi neurons from DYT1 and DYT6 patients. Discussion Discovery of the genetic mutations responsible for the DYT6 phenotype allows for screening and analysis of a new homogeneous group of dystonia patients. DYT6 patients appear to respond less robustly to GPi-DBS than their DYT1 counterparts, most likely reflecting differences in the underlying pathophysiology of these distinct genetic disorders. Conclusions While early results of pallidal DBS for DYT6 dystonia are encouraging, further research and additional subjects are needed both to optimise stimulation parameters for this population and to elucidate more accurately their response to surgical treatment. [ABSTRACT FROM AUTHOR]

Background The relationship between temporal lobe epilepsy and focal limb dystonia is a well-recognized phenomenon, yet its pathogenesis and anatomic foundation are not well understood. Here, we describe 2 patients with refractory focal epilepsy and contralateral focal limb dystonia whose seizures and dystonic symptoms simultaneously resolved after anterior temporal lobectomy and amygdalohippocampectomy. Case Description We identified 2 patients within the Mount Sinai Health system with improvement in dystonia after medial temporal lobectomy. Retrospective chart reviews for the clinical history were performed. Patient 1 suffered a traumatic injury of the right temporal lobe, developing left hemidystonia and epilepsy. He received a right amygdala-hippocampectomy, which resolved both. Patient 2 has a history of right temporal glioma resection complicated by an infarct, resulting in left hemidystonia and epilepsy. He received a right medial temporal resection, which nearly resolved both. Conclusion Our cases demonstrate a medial temporal-basal ganglia network dysfunction in dystonia-epilepsy that was modulated and cured by resective surgery. We hypothesize that the mechanisms behind these observed phenomena were due to a pathologic connectivity of the basal ganglia and amygdala-hippocampus. To our knowledge, these are the first reported cases of dystonia and concomitant epilepsy resolving with temporal lobectomy and provide valuable prognostic information for similarly affected patients. [ABSTRACT FROM AUTHOR]