Objective: We describe clinical outcomes and local field potential characteristics in 2 cases of fulminant onset XDP who went on to have bilateral GPi DBS within one year of diagnosis.
Background: X-linked Dystonia-Parkinsonism (XDP or DYT3) or “lubag” disease is an X-linked recessive disease predominantly affecting Filipino Men. The disease is thought to have originated through a founder mutation on the Philippine island of Panay 1-2,000 years ago. In the local dialect on the island of Panay, the word “Lubag” describes twisting or posturing. The clinical phenotype can vary significanty between individuals with dystonia, tremor and parkinsonism being the most common features. Focal dystonia is the most common presenting feature often cervical dystonia, blepharospasm, distal limb dystonia, oromandibular or lingual dystonia. Age of onset ranges from 12 to 48 years. Response to pharmacotherapy is often poor. Deep brain stimulation (DBS) of the globus pallidus interna has been shown to be effective in generalized and segmental dystonia and a small body of evidence supports its use in XDP.
Method: 2 patients with genetic diagnoses of XDP underwent bilateral GPi DBS and were followed up at 3, 6 and 12 months.
Results: In case 1, BFMDRS reduced from 17 preoperatively to 11 at 6 months and 6.5 at 1 year post implantation. X-linked Dystonia Parkinsonism rating scale (XDPRS) improved from 50 preoperatively to 30 6 months and 16 at 12 months post op. In case 2, BFMDRS reduced from 39 preoperatively to 18 at 6 months and 26 at 1 year post implantation. XDPRS improved from 66 preoperatively to 45 6 months and 39 at 12 months post op. LFP characteristics showed peaks in the 5-10hz and 15-25hz range which attenuated with stimulation.
Conclusion: The two described cases support the use of early GPi DBS in fulminant onset cases of XDP and provide characteristics of the Local field potentials associated with this condition.
To cite this abstract in AMA style:
E. Donlon, C. O'Keefe, G. Mullane, F. Ruggieri, M. Alexander, C. Moran, T. Lynch, C. Fearon, E. Pereira, R. Walsh. Clinical Outcomes and Local Field Potential Characteristics in Bilateral GPi DBS in 2 cases of X-Linked Dystonia Parkinsonism [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/clinical-outcomes-and-local-field-potential-characteristics-in-bilateral-gpi-dbs-in-2-cases-of-x-linked-dystonia-parkinsonism/. Accessed May 18, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-outcomes-and-local-field-potential-characteristics-in-bilateral-gpi-dbs-in-2-cases-of-x-linked-dystonia-parkinsonism/