title: Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.
abstract: Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.
authors.affiliation: Columbia University Medical Center, New York, NY 10032, United States. mkurtis@ruberinternacional.es
authors.forename: Monica M
authors.initials: MM
authors.lastname: Kurtis
authors.forename: Marta
authors.initials: M
authors.lastname: San Luciano
authors.forename: Qiping
authors.initials: Q
authors.lastname: Yu
authors.forename: Robert R
authors.initials: RR
authors.lastname: Goodman
authors.forename: Blair
authors.initials: B
authors.lastname: Ford
authors.forename: Deborah
authors.initials: D
authors.lastname: Raymond
authors.forename: Seth L
authors.initials: SL
authors.lastname: Pullman
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D046690:Deep Brain Stimulation / Q000379:methods*; D004421:Dystonia / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery / Q000628:therapy*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009207:Myoclonus / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery / Q000628:therapy*; D049031:Sarcoglycans / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D049031:Sarcoglycans