{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:04:15Z","timestamp":1790874255703,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T00:00:00Z","timestamp":1750377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR\u20102009\u20101594645"],"award-info":[{"award-number":["GR\u20102009\u20101594645"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Bilateral globus pallidus pars interna deep brain stimulation (GPi\u2010DBS) is a recognized and effective treatment option for drug\u2010resistant dystonia patients. However, the clinical GPi\u2010DBS outcomes vary significantly. Herein, we explored the pre\u2010implant factors affecting GPi\u2010DBS effectiveness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genetic profiles, symptom distribution, age at onset, disease duration, and severity of a cohort of 31 GPi\u2010DBS dystonia patients were collected. Dystonia motor severity was evaluated before and after GPi\u2010DBS using the Burke\u2013Fahn\u2013Marsden Dystonia\u2010Rating\u2010Scale (BFMDRS\u2010M). We assessed the interplay of the aforementioned factors in determining the BFMDRS\u2010M improvement through a multilinear regression analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>BFMDRS\u2010M score showed a significant improvement (47.8%) since the first year, remaining stable at 5\u2009years (54.3%). Lower limb (0.20), upper limb (0.16) and trunk (0.24) symptoms showed a significantly larger improvement compared to cranial symptoms (0.07, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). Consequently, patients with more pronounced lower limb motor symptoms displayed a greater GPi\u2010DBS effect (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01). However, pre\u2010treatment localization of motor symptoms accounted only for 31% of the Inter\u2010Patient Variability (IPV) in post\u2010GPi\u2010DBS improvement. <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.thesaurus.com\/browse\/amelioration\">Amelioration<\/jats:ext-link> varied also across genetic profiles, with the largest improvement reported for <jats:italic>DYT\u2010TOR1A<\/jats:italic> patients (<jats:italic>n<\/jats:italic>\u2009=\u20099, 64.2% in the first year), predicting 36% of IPV. Interestingly, combining motor and genetic profiles predicted 73% of the IPV. Including the clinical profile of the patient (age at onset, disease severity and duration) increased prediction accuracy to 81%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our results suggest that motor and genetic profiles contribute independently to the efficacy of the GPi\u2010DBS treatment. These results may support a personalized prediction of DBS outcomes in dystonia patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.70098","type":"journal-article","created":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T05:03:54Z","timestamp":1750395834000},"page":"1660-1669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2190-0089","authenticated-orcid":false,"given":"Mahboubeh","family":"Ahmadipour","sequence":"first","affiliation":[{"name":"The Biorobotics Institute Scuola Superiore Sant'Anna  Pisa Italy"},{"name":"Department of Excellence for Robotics and AI Scuola Superiore Sant'Anna  Pisa 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Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Mazzoni","sequence":"additional","affiliation":[{"name":"The Biorobotics Institute Scuola Superiore Sant'Anna  Pisa Italy"},{"name":"Department of Excellence for Robotics and AI Scuola Superiore Sant'Anna  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Colucci","sequence":"additional","affiliation":[{"name":"Movement Disorders Department Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"},{"name":"Department of Neuroscience and Rehabilitation University of Ferrara  Ferrara 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