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

[Background] Deep 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, p...

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Autores: Indelicato, Elisabetta, Carmona-Hidalgo, Beatriz, Quintero, Javier, Ortigoza-Escobar, Juan Darío, Koy, Anne, Salamon, András, Tacik, Pawel, Muñoz-Delgado, Laura, Giannini, Giulia, Reich, Martin, Albanese, Alberto, Bäumer, Tobias, Grandas, Francisco, Jech, Robert, Leonardos, Athanasios, Mir, Pablo, Pérez-Dueñas, Belén, Pérez-Sánchez, Javier Ricardo, Valldeoriola, Francesc, Zanni, Ginevra, Vidailhet, Marie, Rodríguez-López, Rocío, Blasco-Amaro, Juan Antonio, Reinhard, Carola, Boesch, Sylvia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2026
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/420311
Acceso en línea:http://hdl.handle.net/10261/420311
https://api.elsevier.com/content/abstract/scopus_id/105027705369
Access Level:acceso abierto
Palabra clave:Deep brain stimulation
Dystonia
Dystonia genes
Genetic testing
Systematic review
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spelling Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic ReviewIndelicato, ElisabettaCarmona-Hidalgo, BeatrizQuintero, JavierOrtigoza-Escobar, Juan DaríoKoy, AnneSalamon, AndrásTacik, PawelMuñoz-Delgado, LauraGiannini, GiuliaReich, MartinAlbanese, AlbertoBäumer, TobiasGrandas, FranciscoJech, RobertLeonardos, AthanasiosMir, PabloPérez-Dueñas, BelénPérez-Sánchez, Javier RicardoValldeoriola, FrancescZanni, GinevraVidailhet, MarieRodríguez-López, RocíoBlasco-Amaro, Juan AntonioReinhard, CarolaBoesch, SylviaDeep brain stimulationDystoniaDystonia genesGenetic testingSystematic review[Background] Deep 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.[Methods] To 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.[Results] Our 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.[Conclusions] Based 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.This study has been supported by ERN-RND, funded by the European Union under Grant Agreement No. 101085584.Several authors of this study are members of the European Reference Network for Rare Neurological Diseases—Project ID No. 739510.Peer reviewedWiley-VCHEuropean CommissionIndelicato, Elisabetta [0000-0003-0217-8630]Giannini, Giulia [0000-0002-0499-3236]Jech, Robert [0000-0002-9732-8947]Mir, Pablo [0000-0003-1656-302X]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202620262026info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bcPublisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/420311https://api.elsevier.com/content/abstract/scopus_id/105027705369reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.1111/ene.70490https://doi.org/10.1111/ene.70490Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/4203112026-05-22T06:33:51Z
dc.title.none.fl_str_mv Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
title Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
spellingShingle Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
Indelicato, Elisabetta
Deep brain stimulation
Dystonia
Dystonia genes
Genetic testing
Systematic review
title_short Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
title_full Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
title_fullStr Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
title_full_unstemmed Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
title_sort Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
dc.creator.none.fl_str_mv Indelicato, Elisabetta
Carmona-Hidalgo, Beatriz
Quintero, Javier
Ortigoza-Escobar, Juan Darío
Koy, Anne
Salamon, András
Tacik, Pawel
Muñoz-Delgado, Laura
Giannini, Giulia
Reich, Martin
Albanese, Alberto
Bäumer, Tobias
Grandas, Francisco
Jech, Robert
Leonardos, Athanasios
Mir, Pablo
Pérez-Dueñas, Belén
Pérez-Sánchez, Javier Ricardo
Valldeoriola, Francesc
Zanni, Ginevra
Vidailhet, Marie
Rodríguez-López, Rocío
Blasco-Amaro, Juan Antonio
Reinhard, Carola
Boesch, Sylvia
author Indelicato, Elisabetta
author_facet Indelicato, Elisabetta
Carmona-Hidalgo, Beatriz
Quintero, Javier
Ortigoza-Escobar, Juan Darío
Koy, Anne
Salamon, András
Tacik, Pawel
Muñoz-Delgado, Laura
Giannini, Giulia
Reich, Martin
Albanese, Alberto
Bäumer, Tobias
Grandas, Francisco
Jech, Robert
Leonardos, Athanasios
Mir, Pablo
Pérez-Dueñas, Belén
Pérez-Sánchez, Javier Ricardo
Valldeoriola, Francesc
Zanni, Ginevra
Vidailhet, Marie
Rodríguez-López, Rocío
Blasco-Amaro, Juan Antonio
Reinhard, Carola
Boesch, Sylvia
author_role author
author2 Carmona-Hidalgo, Beatriz
Quintero, Javier
Ortigoza-Escobar, Juan Darío
Koy, Anne
Salamon, András
Tacik, Pawel
Muñoz-Delgado, Laura
Giannini, Giulia
Reich, Martin
Albanese, Alberto
Bäumer, Tobias
Grandas, Francisco
Jech, Robert
Leonardos, Athanasios
Mir, Pablo
Pérez-Dueñas, Belén
Pérez-Sánchez, Javier Ricardo
Valldeoriola, Francesc
Zanni, Ginevra
Vidailhet, Marie
Rodríguez-López, Rocío
Blasco-Amaro, Juan Antonio
Reinhard, Carola
Boesch, Sylvia
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv European Commission
Indelicato, Elisabetta [0000-0003-0217-8630]
Giannini, Giulia [0000-0002-0499-3236]
Jech, Robert [0000-0002-9732-8947]
Mir, Pablo [0000-0003-1656-302X]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Deep brain stimulation
Dystonia
Dystonia genes
Genetic testing
Systematic review
topic Deep brain stimulation
Dystonia
Dystonia genes
Genetic testing
Systematic review
description [Background] Deep 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.
publishDate 2026
dc.date.none.fl_str_mv 2026
2026
2026
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_dcae04bc
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/420311
https://api.elsevier.com/content/abstract/scopus_id/105027705369
url http://hdl.handle.net/10261/420311
https://api.elsevier.com/content/abstract/scopus_id/105027705369
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.1111/ene.70490
https://doi.org/10.1111/ene.70490
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley-VCH
publisher.none.fl_str_mv Wiley-VCH
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
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repository.mail.fl_str_mv
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