Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
Year: 2026
Type: review
Study design: Systematic Review
Abstract: 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.
Source: European Journal of Neurology
DOI: 10.1111/ene.70490
Authors: Elisabetta Indelicato, Beatriz Carmona‐Hidalgo, Javier Quintero, Juan Darío Ortigoza Escobar, Anne Koy, András Salamon, Pawel Tacik, Laura Muñoz‐Delgado, Giulia Giannini, Martin Reich, Alberto Albanese, Tobias Bäumer, Francisco Grandas, Robert Jech, Athanasios Leonardos, Pablo Mir, Belén Pérez‐Dueñas, Javier Ricardo Perez‐Sanchez, Francesc Valldeoriola, Ginevra Zanni, Marie Vidailhet, Rocío Rodríguez‐López, Juan Antonio Blasco‐Amaro, Carola Reinhard, Sylvia Boesch, the European Reference Network for Rare Neurological Diseases (ERN‐RND)
Institutions: Innsbruck Medical University, Fundación Progreso y Salud, Hospital Sant Joan de Déu Barcelona, Instituto de Salud Carlos III, Institut de Recerca Sant Joan de Déu, University of Cologne, University Hospital Cologne, University of Szeged, University Hospital Bonn, Centro de Investigación Biomédica en Red, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Istituto delle Scienze Neurologiche di Bologna, University of Bologna, University of Würzburg, IRCCS Humanitas Research Hospital, University of Lübeck, Hospital General Universitario Gregorio Marañón, Charles University, General University Hospital in Prague, National and Kapodistrian University of Athens, Vall d'Hebron Hospital Universitari, Hospital Clínic de Barcelona, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Centre National de la Recherche Scientifique, Inserm, Sorbonne Université, Institut du Cerveau, Universitätsklinikum Tübingen
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,600
Funder: European Commission
Awards: G1920181826, G5911185630
OpenAlex ID: W7124468149