title: Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study.
abstract: Long-term efficacy of internal globus pallidus (GPi) deep-brain stimulation (DBS) in DYT1 dystonia and disease progression under DBS was studied. Twenty-six patients of this open-label study were divided into two groups: (A) with single bilateral GPi lead, (B) with a second bilateral GPi lead implanted owning to subsequent worsening of symptomatology. Dystonia was assessed with the Burke Scale. Appearance of new symptoms and distribution according to body region were recorded. In the whole cohort, significant decreases in motor and disability subscores (P < 0.0001) were observed at 1 year and maintained up to 10 years. Group B showed worsening of the symptoms. At 1 year, there were no significant differences between Groups A (without subsequent worsening) and B; at 5 years, a significant difference was found for motor and disability scores. Within Group B, four patients exhibited additional improvement after the second DBS surgery. In the 26 patients, significant difference (P = 0.001) was found between the number of body regions affected by dystonia preoperatively and over the whole follow-up. DBS efficacy in DYT1 dystonia can be maintained up to 10 years (two patients). New symptoms appear with long-term follow-up and may improve with additional leads in a subgroup of patients.
authors.affiliation: CHRU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie, Montpellier, France. a-cif@chu-montpellier.fr
authors.forename: Laura
authors.initials: L
authors.lastname: Cif
authors.forename: Xavier
authors.initials: X
authors.lastname: Vasques
authors.forename: Victoria
authors.initials: V
authors.lastname: Gonzalez
authors.forename: Patrice
authors.initials: P
authors.lastname: Ravel
authors.forename: Brigitte
authors.initials: B
authors.lastname: Biolsi
authors.forename: Gwenaelle
authors.initials: G
authors.lastname: Collod-Beroud
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: Hassan
authors.initials: H
authors.lastname: Elfertit
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Philippe
authors.initials: P
authors.lastname: Coubes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D004421:Dystonia / Q000235:genetics / Q000628:therapy*; D005260:Female; D005917:Globus Pallidus / Q000502:physiology; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human