Clinical Report: Efficacy of Deep Brain Stimulation in Early-Onset Parkinsonism
Background
Deep brain stimulation (DBS) is a recognized treatment for advanced Parkinson's disease (PD), primarily targeting the subthalamic nucleus or globus pallidus internus. However, the outcomes of DBS in rare genetic forms of early-onset parkinsonism, such as those caused by SYNJ1 mutations, remain poorly understood. Clinical data regarding the safety and efficacy of DBS in carriers of the SYNJ1 mutation are limited.
Data Highlights
Case
Variant
DBS Target
LEDD Reduction
UPDRS-III Score Change
Case 1
c.1969A > G
GPi
475 mg/day
Improved from 47 to 15
Case 2
c.1627 + 13 T > A
STN
350 mg/day
Improved from 51 to 32
Key Findings
Case 1 showed a reduction in LEDD from 775 mg/day to 300 mg/day after GPi-DBS.
Case 2 experienced a reduction in LEDD from 955 mg/day to 605 mg/day following STN-DBS.
Both patients had significant improvements in motor symptoms, as indicated by UPDRS-III score changes.
Neuropsychiatric symptoms persisted in Case 1 despite motor improvements.
The median LEDD reduction in the contextual cohort was 35.2% after DBS.
Genotype-specific uncertainty regarding DBS efficacy was noted in both cases.
Clinical Implications
Clinicians should be aware of the potential for persistent neuropsychiatric symptoms and the need for careful patient selection when considering DBS for patients with SYNJ1-related early-onset parkinsonism.
Conclusion
The findings from these cases illustrate heterogeneous responses to DBS in patients with SYNJ1 mutations, indicating that while DBS can provide symptomatic relief, further research is needed to establish genotype-specific outcomes.
