期刊
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
卷 91, 期 4, 页码 426-433出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jnnp-2019-322169
关键词
dystonia; deep brain stimulation; globus pallidus; genetics; monogenic
资金
- Zambon
- Abbvie
- Ralpharma
- NIH [1R01HL125016-01, 1 R21 HL143030-01, 1R21 AI133207, R21 AI118228, KL2 TR001426]
- CPRIT [PP180003, PP170068, PP170004, PP140164, 140211, PP110156, PP150031, PP130083]
- Medtronic
- Lusofarmaco
- UCB Pharma
- DOC
- Bial
- Stichting Parkinson Fonds
- Cure Parkinson Trust
- Drown Foundation
- NIH
- Parkinson's Foundation
- Michael J. Fox Foundation
- Parkinson Alliance
- Smallwood Foundation
- Bachmann-Strauss Foundation
- Tourette Syndrome Association
- UF Foundation
- Abbott
- Allergan
- Great Lakes Neurotechnologies
- Michael J Fox Foundation
- Lundbeck
- Academy for Healthcare Learning
- PeerView
- Prime
- QuantiaMD
- WebMD/Medscape
- Medicus
- MedNet
- Henry Stewart
- American Academy of Neurology
- Movement Disorders Society
- Vanderbilt University
- [R01 NR014852]
- [R01NS096008]
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.
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