Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis
Journal of Neurology Neurosurgery & Psychiatry, vol. 91, pp. 426–433
Abstract
Objective Genetic subtypes of dystonia may respond differentially to deep brain stimulation of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes among the most common monogenic dystonias. Methods This systematic review and meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses and Meta-analysis of Observational Studies in Epidemiology guidelines. We searched PubMed for studies on genetically confirmed monogenic dystonia treated with GPi DBS documenting pre-surgical and post-surgical assessments using the Burke–Fahn–Marsden Dystonia Rating Scale Motor Score (BFMMS) and Burke–Fahn–Marsden Disability Score (BFMDS). We performed (i) meta-analysis for each gene mutation; (ii) weighted ordinary linear regression analyses to compare BFMMS and BFMDS outcomes between DYT- TOR1A and other monogenic dystonias, adjusting for age and disease duration and (iii) weighted linear regression analysis to estimate the effect of age, sex and disease duration on GPi DBS outcomes. Results were summarised with mean change and 95% CI. Results DYT- TOR1A (68%, 38.4 points; p<0.001), DYT- THAP1 (37% 14.5 points; p<0.001) and NBIA/DYT- PANK2 (27%, 21.4 points; p<0.001) improved in BFMMS; only DYT- TOR1A improved in BFMDS (69%, 9.7 points; p<0.001). Improvement in DYT- TOR1A was significantly greater than in DYT- THAP1 (BFMMS −31%), NBIA/DYT- PANK2 (BFMMS −35%; BFMDS −53%) and CHOR/DYT- ADCY5 (BFMMS −36%; BFMDS −42%). Worse motor outcomes were associated with longer dystonia duration and older age at dystonia onset in DYT- TOR1A , longer dystonia duration in DYT/PARK- TAF1 and younger age at dystonia onset in DYT- SGCE . Conclusions GPi DBS outcomes vary across monogenic dystonias. These data serve to inform patient selection and prognostic counselling.
Authors 16
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Carlo Alberto Artusi corresponding
Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy caartusi@gmail.com
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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Texas Tech University Health Sciences Center
Affiliation as printed
Texas Tech University Health Sciences Center El Paso, El Paso, Texas, USA
Texas Tech University Health Sciences Center El Paso
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Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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Affiliation as printed
Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA
Department of Neurology
University of Cincinnati
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Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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Affiliation as printed
Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA
Department of Neurology
University of Cincinnati
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Affiliation as printed
Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA
Department of Neurology
University of Cincinnati
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Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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Maria Fiorella Contarino Aachen
Leiden University Medical Center · Haga Hospital
Affiliation as printed
Department of Neurology, Haga Teaching Hospital, The Hague, The Netherlands
Leids Universitair Medisch Centrum, Leiden, The Netherlands
Department of Neurology
Haga Teaching Hospital
Leids Universitair Medisch Centrum
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Toronto Western Hospital · Krembil Research Institute
Affiliation as printed
Krembil Research Institute, Toronto, Ontario, Canada
Morton and Gloria Shulman Movement Disorders Clinic. Division of Neurology, Toronto Western Hospital, Toronto, Ontario, Canada
Krembil Research Institute
Morton and Gloria Shulman Movement Disorders Clinic. Division of Neurology
Toronto Western Hospital
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Affiliation as printed
Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
Cedars Sinai Medical Center
Department of Neurology
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Affiliation as printed
Department of Neurology, University of Florida, Gainesville, Florida, USA
Department of Neurology
University of Florida
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Affiliation as printed
Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA
Department of Neurology
University of Cincinnati
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Affiliation as printed
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
Department of Neuroscience "Rita Levi Montalcini"
University of Turin
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The Ohio State University Wexner Medical Center · The Ohio State University
Affiliation as printed
Department of Neurology, Ohio State University Wexner Medical Center, Columbus, Ohio, USA
Department of Neurology
Ohio State University Wexner Medical Center
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