Objective: To demonstrate long-term improvement of parkinsonism and dystonia in patients with X-linked dystonia-parkinsonism (XDP) following deep brain stimulation (DBS) in the subthalamic nucleus (STN).
Background: XDP is a rare genetic movement disorder, which presents with focal to generalized dystonia and parkinsonian features [2]. Symptoms may be resistant to typical pharmacologic treatment. Positive long-term outcomes with bilateral globus pallidus interna (GPi) DBS have been documented [3-7]. STN is less commonly used as a DBS target for dystonia treatment [8], and has not been documented in XDP treatment. This case report outlines an XDP patient with bilateral STN DBS who exhibited immediate and prolonged improvement in symptoms over 22 months.
Method: Case report
Results:
The patient is a middle-aged Filipino man from Panay island, diagnosed with XDP via genetic testing at the age of 51. Symptoms at onset included blepharospasm, cervical dystonia, and bilateral parkinsonism. In response to initial levodopa administration, he demonstrated significant improvement in Unified Parkinson Disease Rating Scale (UPDRS) motor score (65 off and 36 on). Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) at this time was 26.5.
Bilateral GPi were planned targets for DBS lead placement based on the literature; however, due to distortion of GPi anatomy, target was changed intraoperatively to bilateral STN.
On initial programming visit, there was rapid improvement of tremor, bradykinesia, and rigidity; motor UPDRS improved to 21 and BFMDRS to 19 [1].
Most recently, the patient was seen in clinic at 22 months following DBS placement. During this visit, he continued to show significant response to DBS programming changes, including marked improvement in bradykinesia and mild improvement of dystonia. Gait is also markedly improved, with only mild stooped posture and mild reduction in arm swing. At this time, UPDRS was 28 and BFMDRS was 9, both of which are substantial improvements from off treatment and from levodopa treatment. UPDRS of 28 is comparable to 21 which was observed at the initial programming visit.
Conclusion: While long term improvement of XDP has been reported with GPI [3-7], it has not been studied with STN. This case report demonstrates continued improvement of parkinsonism and dystonia in a patient with XDP over 2 years.
References: [1] 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.
[2] Bragg CD, Sharma N, Ozelius LJ. X-Linked Dystonia-Parkinsonism: recent advances. Current Opinion in Neurology. 2019; 32(4):604-609.
[3] 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;60:81-86.
[4] Kilbane C, Witt J, Galifianakis NB, Glass GA, Volz M, Heath S, Starr PA, Ostrem JL. Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism. Stereotact Funct Neurosurg. 2018;96(5):320-326.
[5] Oyama G, Fernandez HH, Foote KD, Zeilman P, Hwynn N, Jacobson CE 4th, et al. Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag). Stereotact Funct Neurosurg 2010;88:329–333.
[6] Wadia PM, Lim SY, Lozano AM, Adams JR, Poon YY, Diaz CT, et al. Bilateral pallidal stimulation for x-linked dystonia parkinsonism. Arch Neurol 2010;67:1012–1015.
[7] Martinez-Torres I, Limousin P, Tisch S, Page R, Pinto A, Foltynie T, et al. Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia. Mov Disord 2009;24:1710–1712.
[8] Aguilar JA, Vesagas TS, Jamora RD, Teleg RA, Ledesma L, Rosales RL, Fernandez HH & Lee LV. The Promise of Deep Brain Stimulation in X-Linked Dystonia Parkinsonism, International Journal of Neuroscience. 2011;121(1): 57-63.
[9] Fan H, Zheng Z, Yin Z, Zhang J, Lu G. Deep Brain Stimulation Treating Dystonia: A Systematic Review of Targets, Body Distributions and Etiology Classifications. Front Hum Neurosci. 2021;15:757579.
To cite this abstract in AMA style:
I. Khatiwala, P. Moondra, A. Azurin, B. Kopell, J. Jimenez Shahed, W. Tse. Prolonged Positive Response: Subthalamic Nucleus as a Deep Brain Stimulation Target in X-linked Dystonia-Parkinsonism [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/prolonged-positive-response-subthalamic-nucleus-as-a-deep-brain-stimulation-target-in-x-linked-dystonia-parkinsonism/. Accessed October 12, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/prolonged-positive-response-subthalamic-nucleus-as-a-deep-brain-stimulation-target-in-x-linked-dystonia-parkinsonism/