• Brecht Decraene, Sara Smeets, Daan Remans, Els Ortibus, Wim Vandenberghe, Bart Nuttin, Tom Theys, and Philippe De Vloo.
• Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium. Electronic address: brecht.decraene@uzleuven.be.
• Neuromodulation. 2024 Apr 1; 27 (3): 440446440-446.

ObjectivesGuanine nucleotide-binding protein alpha-activating activity polypeptide O (GNAO1) syndrome, a rare congenital monogenetic disorder, is characterized by a neurodevelopmental syndrome and the presence of dystonia. Dystonia can be very pronounced and even lead to a life-threatening status dystonicus. In a small number of pharmaco-refractory cases, deep brain stimulation (DBS) has been attempted to reduce dystonia. In this study, we summarize the current literature on outcome, safety, and outcome predictors of DBS for GNAO1-associated dystonia.Materials And MethodsWe conducted a systematic review and meta-analysis on individual patient data. We included 18 studies describing 28 unique patients.ResultsThe mean age of onset of symptoms was 2.4 years (SD 3.8); 16 of 28 patients were male, and dystonia was nearly always generalized (20/22 patients). Symptoms were present before DBS for a median duration of 19.5 months, although highly variable, occurring between 3 and 168 months. The exact phenotype, genotype, and radiologic abnormalities varied and seemed to be of little importance in terms of DBS outcome. All studies described an improvement in dystonia. Our meta-analysis focused on pallidal DBS and found an absolute and relative improvement in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) of 32.5 points (37.9%; motor part; p = 0.001) and 5.8 points (21.5%; disability part; p = 0.043) at last follow-up compared with preoperative state; 80% of patients were considered responders (BFMDRS-M reduction by ≥25%). Although worsening over time does occur, an improvement was still observed in patients after >10 years. All reported cases of status dystonicus resolved after DBS surgery. Skin erosion and infection were observed in 18% of patients.ConclusionPallidal DBS can be efficacious and safe in GNAO1-associated dystonia.Copyright © 2023 International Neuromodulation Society. Published by Elsevier Inc. All rights reserved.

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