CLINICAL ARTICLE - FUNCTIONAL Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up G. Fernández-Pajarín 1 & A. Sesar 1 & J. L. Relova 2 & B. Ares 1 & I. Jiménez-Martín 1 & P. Blanco-Arias 3 & M. Gelabert-González 4 & A. Castro 1 Received: 9 May 2016 /Accepted: 21 July 2016 # Springer-Verlag Wien 2016 Abstract Background Myoclonus-dystonia syndrome (MDS) is an au- tosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifesta- tions. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS. Methods We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years. Results DBS improves significantly the Unified Myoclonus Rating Scale and Burke–Fahn–Marsden Dystonia Rating Scale in all three patients. This improvement is sustained over the years and no major adverse events were recorded. DBS stimulation parameters employed are justified and compared with cases reported throughout the literature. Discussion DBS of bilateral GPi is an effective and safe ther- apy to be considered in MDS refractory cases. Careful neuro- psychological evaluation is essential inside the presurgery planning. Correct location of the DBS electrodes and individ- ualized selection of stimulation parameters in each case are the main determinants of the best clinical response. Keywords Myoclonus-dystonia . DYT11 . Deep brain stimulation . Internal globus pallidus Introduction Myoclonus-dystonia syndrome (MDS, DYT11) is a rare au- tosomal dominant movement disorder caused by mutations in the SGCE (epsilon-sarcoglycan) gene (7q21-31). A mutation involving SGCE usually results in loss of function. Sometimes, large deletions may involve adjacent genes caus- ing additional phenotypes [26]. Penetrance is not complete, since the gene is maternally imprinted [9], so most cases are paternally inherited. Unlike other sarcoglycans, epsilon- sarcoglycan is expressed mainly in the basal ganglia, cerebel- lum, and brainstem, including dopaminergic neurons. Its func- tion is not well known [3]. Clinically, this syndrome is char- acterized by childhood onset of mild dystonia and myoclonic jerks, mostly affecting the neck, trunk, and upper limbs. Despite an unpredictable course, by the early 20s the symp- toms tend to become unchanged. Psychiatric manifestations are frequent, particularly obsessive–compulsive disorder. Relief of the symptoms with alcohol intake is common [15]. Recently, deep brain stimulation (DBS) for the control of symptoms has been proposed [24]. We report three cases of genetically diagnosed MDS successfully treated with bilateral internal globus pallidus (GPi) deep brain stimulation (DBS). * G. Fernández-Pajarín gferpaj@gmail.com 1 Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain 2 Department of Clinical Neurophysiology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain 3 Fundación Pública Galega de Medicina Xenómica-SERGAS, Centro para la Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain 4 Department of Neurosurgery, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain Acta Neurochir DOI 10.1007/s00701-016-2904-3