Objective: To demonstrate sustained improvement in parkinsonism and dystonia in patients with X-linked Dystonia-Parkinsonism (XDP) after deep brain stimulation (DBS) of the subthalamic nucleus (STN) and to explore the electrophysiological significance of gamma oscillations in dystonia.

Background: XDP is a rare neurodegenerative disorder characterized by progressive dystonia and parkinsonism [2]. Treatment of dystonia with DBS often targets the globus pallidus interna (GPi), which is reflected in multiple reports of positive long-term outcomes in XDP patients with DBS of bilateral GPi [1]. The STN is used less frequently as a target for dystonia treatment and has not been previously reported as a target for DBS treatment of XDP. DBS programming for dystonia is also limited by its delayed clinical effects, making electrophysiologic markers in guiding DBS programming invaluable [3]. In this case report, we present an XDP patient treated with DBS to bilateral STN with immediate and sustained improvement in symptoms at 42 months. Additionally, while gamma oscillations typically reflects dyskinesias, review of his LFP profile provides insights into the utility of the gamma peak as a potential electrophysiological marker for dystonia.

Method: Case report

Results: A Filipino man from Panay island initially presented with blepharospasm, cervical dystonia, and bilateral parkinsonism. He was diagnosed with DYT3 at the age of 51 via genetic testing. He was levodopa-responsive (UPDRS motor score 65 OFF, 36 ON) and underwent DBS placement at age 59 due to motor fluctuations and dyskinesias. The initial DBS target was bilateral GPi but this was switched intra-operatively to bilateral STN due to distortion of the GPi anatomy. He had significant improvement in UPDRS motor score and BFMDRS on initial programming, which was sustained at 22 months and most recently at 42 months (pre-DBS vs current: UPDRS motor score 65 vs 31; BFMDRS 26.5 vs 12). While there was no clear beta peak at either STN on BrainSense survey, there was a low power gamma peak at 59.57Hz at contacts 2 (0.71), 8 (0.66), and 9a, b, c (0.58), corresponding with the contacts used in his optimized DBS settings.

Conclusion: The STN may serve as an alternate DBS target for patients with XDP. The clinical utility of the gamma peak as an electrophysiological marker in dystonia may warrant further investigation.

References: [1] Abejero JEE, Jamora RDG, Vesagas TS, Teleg RA, Rosales RL, Anlacan JP, Velasquez MS, Aguilar JA. Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature. Parkinsonism Relat Disord. 2019 Mar;60:81-86. doi: 10.1016/j.parkreldis.2018.09.022. Epub 2018 Sep 21. PMID: 30262378.
[2] Evidente VGH. X-Linked Dystonia-Parkinsonism. 2005 Dec 13 [Updated 2018 Feb 15]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1489/
[3] Jimenez-Shahed J. Device profile of the percept PC deep brain stimulation system for the treatment of Parkinson’s disease and related disorders. Expert Rev Med Devices. 2021 Apr;18(4):319-332. doi: 10.1080/17434440.2021.1909471. Epub 2021 Apr 5. PMID: 33765395.
[4] Redko S, Kopell B, Tse W. Deep Brain Stimulation of the Subthalamic Nucleus in a Patient with X-Linked Dystonia-Parkinsonism. American Academy of Neurology. 2023; 100(17):2.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/local-field-potentials-lfp-insights-in-the-treatment-of-x-linked-dystonia-parkinsonism-with-deep-brain-stimulation-of-the-subthalamic-nucleus/