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Published on: January 6, 2011
Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International
Katerina Bernardi1, Josh Rong1, Weston T Northam2
1Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Objective:
GNAO1-related disorder is a severe childhood-onset hyperkinetic movement disorder punctuated by life-threatening dyskinetic crises. Small series suggest benefit from bilateral globus pallidus internus deep brain stimulation (GPi-DBS), but optimal timing, patient selection, long-term outcomes, and genotype-specific response remain unclear. We define the clinical impact of GPi-DBS in the largest cohort assembled to date.
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.
