To evaluate the efficacy and safety of deep brain stimulation (DBS) in patients with early-onset parkinsonism due to SYNJ1 mutations.
Approach:
Case Presentation: Two patients with SYNJ1-related early-onset parkinsonism were treated with bilateral DBS. Their outcomes were compared to a gene-listed EOPD DBS cohort.
Key Findings:
Case 1 showed a reduction in levodopa equivalent daily dose (LEDD) from 775 to 300 mg/day with improved dyskinesia and sleep, but persistent motor fluctuations and neuropsychiatric symptoms.
Case 2 had a reduction in LEDD from 955 to 605 mg/day and a decrease in UPDRS-III score from 51 to 32 at 1.5-year follow-up.
The median LEDD reduction in the contextual cohort was 35.2%.
Interpretation:
Limitations:
Small sample size limits generalizability.
Genotype-specific efficacy remains uncertain due to variant-level differences.
