Subtalamik Nükleus'un Parkinson Hastalığı Hastalarına Etkisinin Genetik Risk Faktörleri / Nedenleri ile Araştırılması.

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ObjectiveThe impact of deep brain stimulation of the subthalamic nucleus (STN-DBS) on patients with Parkinson disease (PD) with different genetic risk factors/causes remains uncertain. This study aimed to compare the clinical efficacy of STN-DBS in these patients.MethodsThis study compared STN-DBS outcomes in 18 PD patients with mutations in glucosylceramidase beta (GBA) (n = 3), leucine-rich repeat kinase 2 (LRRK2) (n = 9), or Parkin RBR E3 ubiquitin ligase/PTEN-induced kinase 1/DJ1 (n = 6). Clinical measures-levodopa equivalent daily dose, Movement Disorder Society Unified-Parkinson Disease Rating Scale Part III, Parkinson's Disease Questionnaire-39 (PDQ-39), and total electrical energy delivered-were assessed at baseline, programming initiation, 6 months, 1 year, and 2 years postsurgery. Linear mixed models analyzed longitudinal and intergroup differences.ResultsAll groups showed significant time-dependent improvements. Levodopa equivalent daily dose dropped sharply post-DBS (maximal reduction at 1 year: β = -577.33, P ConclusionsSTN-DBS demonstrated benefits for patients with PD across all genetic backgrounds, but LRRK2 carriers may require increasing stimulation over time, while GBA carriers show reduced motor and quality-of-life improvements.

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