RT Journal Article
SR Electronic
T1 Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 426
OP 433
DO 10.1136/jnnp-2019-322169
VO 91
IS 4
A1 Carlo Alberto Artusi
A1 Alok Dwivedi
A1 Alberto Romagnolo
A1 Sara Bortolani
A1 Luca Marsili
A1 Gabriele Imbalzano
A1 Andrea Sturchio
A1 Elizabeth G Keeling
A1 Maurizio Zibetti
A1 Maria Fiorella Contarino
A1 Alfonso Fasano
A1 Michele Tagliati
A1 M S Okun
A1 Alberto J Espay
A1 Leonardo Lopiano
A1 Aristide Merola
YR 2020
UL http://jnnp.bmj.com/content/91/4/426.abstract
AB 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.