Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis
Bibliographic record
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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.014 | 0.035 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.020 | 0.039 |
| Bibliometrics | 0.005 | 0.007 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.003 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".