title: Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.
abstract: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. 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.
  
  
  
  We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years.
  
  
  
  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.
  
  
  
  DBS of bilateral GPi is an effective and safe therapy to be considered in MDS refractory cases. Careful neuropsychological evaluation is essential inside the presurgery planning. Correct location of the DBS electrodes and individualized selection of stimulation parameters in each case are the main determinants of the best clinical response.
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain. gferpaj@gmail.com.
authors.forename: G
authors.initials: G
authors.lastname: Fernández-Pajarín
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Sesar
authors.affiliation: Department of Clinical Neurophysiology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: J L
authors.initials: JL
authors.lastname: Relova
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Ares
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Jiménez-Martín
authors.affiliation: 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.
authors.forename: P
authors.initials: P
authors.lastname: Blanco-Arias
authors.affiliation: Department of Neurosurgery, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Gelabert-González
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Castro
mesh_terms: D000328:Adult; D046690:Deep Brain Stimulation / Q000009:adverse effects / Q000379:methods*; D020821:Dystonic Disorders / Q000628:therapy*; D005260:Female; D005917:Globus Pallidus / Q000503:physiopathology; D006801:Humans; D008297:Male; D016896:Treatment Outcome
keywords: DYT11; Deep brain stimulation; Internal globus pallidus; Myoclonus-dystonia