Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism

Abstract

Background: X-linked dystonia parkinsonism (XDP) causes adult-onset progressive dystonia and parkinsonism, which may not respond to pharmacotherapy. Objective: Previous case reports have reported beneficial effects from bilateral pallidal (GPi) deep brain stimulation (DBS). Here, we report the long-term clinical outcomes of 3 patients treated at our center. Methods: All patients presented with medication refractory dystonia and parkinsonism. They were followed prospectively. Clinical evaluations included the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Parkinson’s Disease Rating Scale (UPDRS). Adverse events were recorded. Results: The average length of follow-up was 45.7 months. No serious adverse events occurred. All patients experienced an immediate and sustained improvement in dystonia. Mean percentage improvement in motor subscores of BFMDRS was 63.5% at the last follow-up visit. Parkinsonism was less responsive to neuromodulation, with a mean improvement in UPDRS-III of 39.5%. Standard pallidal stimulation parameters were used. Freezing of gait developed after DBS therapy in 2 patients, stimulation-induced in one and due to disease progression in the other. Conclusion: Bilateral pallidal DBS resulted in significant and sustained improvement in dystonia and moderate improvement in parkinsonism. Pallidal DBS represents an important treatment option for XPD for the management of motor symptoms.

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

“…Information on depression or anxiety was available for only five PUB cases, with two patients reported to suffer from clinical depression 16,17 and in none of ADD cases.…”

Transcranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism

“…Chemodenervation with botulinum toxin helps but is limited by the cost [ 5 , 6 ]. Pallidal DBS seems to be the best option as of now, with very significant improvement of the dystonia and a variable response of the parkinsonism symptoms [ 7 , 8 , 9 ]. However, not everyone can undergo DBS due to its cost [ 6 ] and possibly due to its invasive nature.…”

“…Likewise, botulinum toxin is used but is limited by its duration of efficacy and cost [ 5 , 6 ]. The efficacy of pallidal deep brain stimulation (DBS) among XDP patients has been reported [ 7 , 8 , 9 ]. Recently, the use of magnetic resonance (MR)-guided focused ultrasound for XDP has been reported [ 10 ].…”

Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism

“…The use of BoNT-A injection as an adjuvant symptomatic treatment was shown to have no significant difference in the use of oral medications alone. Only a small number of patients in this study underwent DBS, which is considered as the best option in advanced XDP that is refractory to other forms of treatment (6–8). In the Philippines, only two institutions are equipped in performing the surgery and it is not covered by PhilHealth (6).…”

“…Surgery, in the form of deep brain stimulation (DBS) is also an option in the treatment of XDP. Bilateral pallidal DBS have shown significant long term improvement in the dystonia of the patients (6–8). However, 23% of XDP patients remain to be either wheelchair-borne or bed-bound (1).…”