title: Bilateral pallidal stimulation for sargoglycan epsilon negative myoclonus.
abstract: We report on the clinical efficacy of bilateral globus pallidus internus deep brain stimulation in two patients with myoclonus dystonia/essential myoclonus who lack mutations in the epsilon sarcoglycan gene. The primary outcome measures were the Burke-Fahn-Marsden Dystonia Scale motor severity and the Unified Myoclonus Rating Scale scores, and the secondary outcome measure was the 36-item Short Form Health Survey score at the last postoperative follow up. Neuronal firing rates were also calculated from microelectrode recordings. At the last postoperative follow-up (16 weeks for Patient 1 and 18 weeks for Patient 2), there was 57.1% (Patient 1) improvement in the Burke-Fahn-Marsden Dystonia Scale motor severity score and 31.3% (Patient 1) and 69% (Patient 2) in the Unified Myoclonus Rating Scale score while individual SF-36 scores showed improvement in most subdomains. Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon sarcoglycan negative myoclonus with or without concurrent dystonia. Whether an epsilon sarcoglycan negative status represents a less favorable prognostic factor for pallidal deep brain stimulation remains to be elucidated.
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8; Parkinson's Disease and Movement Disorders Program, Henry Ford Hospital, 6777 West Maple Road, West Bloomfield, MI, USA; Department of Physiology, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8. Electronic address: csidiro1@hfhs.org.
authors.forename: Christos
authors.initials: C
authors.lastname: Sidiropoulos
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8.
authors.forename: Tiago
authors.initials: T
authors.lastname: Mestre
authors.affiliation: Department of Physiology, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8; Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8.
authors.forename: William
authors.initials: W
authors.lastname: Hutchison
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8; Department of Psychiatry and Neurology, Movement Disorders Unit, University Hospital Center (CHU) of Grenoble, BP 217, 38043 Grenoble CEDEX 09, France.
authors.forename: Elena
authors.initials: E
authors.lastname: Moro
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Valencia
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8.
authors.forename: Y Y
authors.initials: YY
authors.lastname: Poon
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8.
authors.forename: Melanie
authors.initials: M
authors.lastname: Fallis
authors.affiliation: Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8.
authors.forename: Anand I
authors.initials: AI
authors.lastname: Rughani
authors.affiliation: Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8.
authors.forename: Suneil K
authors.initials: SK
authors.lastname: Kalia
authors.affiliation: Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto Western Hospital, 399 Bathurst St, Toronto, Ontario, Canada M5T 2S8.
authors.forename: Andres M
authors.initials: AM
authors.lastname: Lozano
authors.affiliation: Movement Disorders Centre and the Edmond Safra Program in Parkinson's Disease, Toronto Western Hospital, 399 Bathurst Str., Toronto, Ontario, Canada M5T 2S8.
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
mesh_terms: D000293:Adolescent; D046690:Deep Brain Stimulation / Q000379:methods*; D005260:Female; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000628:therapy*; D049031:Sarcoglycans / Q000235:genetics
chemical_list: D049031:Sarcoglycans
keywords: Deep brain stimulation; Epsilon sarcoglycan; Globus pallidus; Myoclonus dystonia