Evidence map›Paper›PMID 41543040›Full record

SynthesisEuropean journal of neurology2026

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.

Elisabetta Indelicato, Beatriz Carmona-Hidalgo, Javier Quintero, Juan Darío Ortigoza Escobar, Anne Koy, András Salamon, Pawel Tacik, Laura Muñoz-Delgado, Giulia Giannini, Martin Reich and 16 more

Abstract readSystematic Review
In one paragraph

Synthesis in European journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

26 authors.

Elisabetta IndelicatoCenter for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria.ORCID 0000-0003-0217-8630
Beatriz Carmona-HidalgoHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Javier QuinteroHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Juan Darío Ortigoza EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
Anne KoyDepartment of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
András SalamonDepartment of Neurology, University of Szeged, Szeged, Hungary.
Pawel TacikDepartment of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.
Laura Muñoz-DelgadoUnidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Giulia GianniniUOC Clinica Neurologica Rete Metropolitana NEUROMET, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.ORCID 0000-0002-0499-3236
Martin ReichDepartment of Neurology, University of Würzburg, Würzburg, Germany.
Alberto AlbaneseIRCCS-Humanitas Clinical Institute of Rozzano, Milan, Italy.
Tobias BäumerInstitute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.
Francisco GrandasMovement Disorders Unit-CSUR, Department of Neurology, Gregorio Marañón General University Hospital, Madrid, Spain.
Robert JechDepartment of Neurology, First Faculty of Medicine, General University Hospital in Prague, Charles University, Prague, Czech Republic.ORCID 0000-0002-9732-8947
Athanasios LeonardosDepartment of Neurology, University of Athens, Athens, Greece.
Pablo MirUnidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Belén Pérez-DueñasHospital Universitari Vall d'Hebron, Barcelona, Spain.
Javier Ricardo Perez-SanchezMovement Disorders Unit-CSUR, Department of Neurology, Gregorio Marañón General University Hospital, Madrid, Spain.
Francesc ValldeoriolaParkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.
Ginevra ZanniUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Marie VidailhetInstitut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, INSERM UMR 1127, CNRS 7225, Clinical Investigation Centre (CIC), Paris, France.
Rocío Rodríguez-LópezHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Juan Antonio Blasco-AmaroHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Carola ReinhardInstitute for Medical Genetics and Applied Genomics and Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
Sylvia BoeschCenter for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria.
European Reference Network for Rare Neurological Diseases (ERN‐RND)

Funding

European Commission 101085584
6 · The paper itself

Abstract

backgroundDeep brain stimulation (DBS) is an essential treatment option for disabling segmental or generalized dystonia. An underlying monogenic etiology is increasingly recognized as an important predictor of DBS outcomes. Moreover, the genetic background of dystonia is continuously expanding, posing new challenges in the tailored counseling of patients regarding advanced therapies.

methodsTo improve the quality of available evidence on the efficacy of DBS for treating monogenic dystonia, we conducted a systematic review in accordance with PRISMA guidelines. We applied a rigorous methodology and maximized the amount of information provided by including all patients, regardless of age or applied rating scale.

resultsOur findings confirm the high probability of a good DBS outcome in patients harboring TOR1A, SGCE, PANK2, and TAF1 variants. An intermediate response was associated with KMT2B and THAP1 variants. A particularly favorable outcome with > 80% improvement in dystonia symptoms was associated with a subset of DYT-TOR1A patients and few cases with SGCE-, KMT2B-, THAP1-, GNAO1-, and TAF1-related disease. Poor study quality, non-systematic assessment of DBS response, and pooling of patients with different genetic etiologies were among the encountered limitations.

conclusionsBased on the collected evidence, we formulated recommendations for applying DBS in monogenic dystonia. Our findings, together with the cumulative literature, advocate the introduction of genetic testing in the pre-DBS work-up. They furthermore highlight the need to implement and report on systematic assessments of DBS outcomes, including mandatory patient-reported outcomes. These steps will ensure optimal counseling and continuous improvement in the care of patients with monogenic dystonia.

Indexed as

Deep Brain StimulationDystoniaDystonic DisordersHumansMolecular ChaperonesTreatment OutcomeMolecular ChaperonesTOR1A protein, humandeep brain stimulationdystoniadystonia genesgenetic testingsystematic review

Identifiers

PMID41543040
PMCPMC12809714

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.