Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.
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Bernardi Katerina, Rong Josh, Northam Weston T, Kamińska Margaret, Hasegawa Harutomo, Domínguez-Carral Jana, Vogt Lindsey M, Dijk Joke M, Beudel Martijn, Chauvet-Piat Eline, Seng Emilie Chan, Poulen Gaetan, Mahant Neil, Garone Giacomo, Pauni Micaela, Rodríguez Josefina, Munoz-Chesta Daniela, Jones Hannah F, De la Casa-Fages Beatriz, Miranda-Herrero María Concepción, Jennions Elizabeth, Lim Wei Kang, Zea Vera Alonso, Mohammad Shekeeb, Schuurman Rick, van de Pol Laura A, Roubertie Agathe, Ibrahim George M, Gorodetsky Carolina, Thiel Moritz, Koy Anne, Ortigoza-Escobar Juan Darío, Lin Jean-Pierre, Lumsden Daniel E, Ebrahimi-Fakhari Darius, Yang Kathryn
Аннотация
METHODS: Retrospective multicenter cohort study conducted through the DBSMatchMaker platform, including children and young adults with genetically confirmed GNAO1-related disorder treated with bilateral GPi-DBS across 17 centers. The primary outcome was change in dyskinetic crisis burden; secondary outcomes included BFMDRS, Clinical Global Impression (CGI), functional classifications, medication burden, and complications.
RESULTS: Forty-six patients underwent implantation at a mean age of 10.4 ± 4.8 years with mean follow-up of 4.5 ± 3.7 years (longest = 17 years). Over half (52.2%) were implanted emergently during dyskinetic status. Dyskinetic crises were reduced in 38 of 40 patients (95%) and intensive care unit (ICU) admissions in 86.1%. The Burke Fahn Marsden Dystonia Rating Scale (BFMDRS) motor scores improved by 27.5% (p < 0.001, Cohen's d = 1.12); CGI was improved in 93.5%, with greater benefit for chorea than dystonia. Pain, sleep, and medication burden improved; functional classification was largely unchanged. Complications occurred in 19.6%, predominantly in emergent cases.
INTERPRETATION: Bilateral GPi-DBS was associated with sustained prevention of dyskinetic crises and reduction of overall disease burden in GNAO1-related disorder, with limited impact on functional classification. These findings support earlier elective neuromodulation before recurrent crises drive cumulative morbidity and identify GPi-DBS as a crisis-preventive, symptom-modifying intervention rather than a restorative one. ANN NEUROL 2026.