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Background <p>The influence of genetic factors on the efficacy of deep brain stimulation (DBS) remains unclear. This study aimed to analyze the effects of DBS in Han Chinese patients with early-onset Parkinson’s disease (EOPD) across various genetic backgrounds and to explore the differences in DBS responsiveness among patients EOPD with and distinct genetic profiles.</p> Methods <p>This retrospective study examined 48 patients with EOPD who underwent DBS. Patients were divided into mutation-positive (Mut+) and mutation-negative (Mut-) groups. Clinical evaluations were performed before and 24 months after DBS using the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale, Non-Motor Symptoms Scale for Parkinson’s Disease, and levodopa-equivalent daily dose (LEDD).</p> Results <p>In the Mut + group, 16 patients with EOPD carried gene mutations: seven in <i>PRKN</i>, four in <i>GBA</i>, three in <i>PLA2G6</i>, one in <i>LRRK2</i>, and one in <i>PINK1</i>. Fifteen patients had no detectable pathogenic mutations (Mut- group). The two groups had similar baseline demographic characteristics and preoperative clinical features, except for a younger age at onset in the Mut + group. Both the groups derived benefits from DBS surgery, with no statistically significant differences observed between them in terms of motor symptoms improvement and LEDD reduction at 24 months post-DBS. Furthermore, DBS responses varied according to genetic subtype, with the <i>PLA2G6</i> subgroup demonstrating relatively poor outcomes, especially in terms of non-motor symptoms and axial symptoms. Regarding non-motor symptoms, DBS showed no significant differences in non-motor symptom improvement between the two groups or among the various genetic subgroups.</p> Conclusions <p>DBS is effective in improving motor symptoms and reducing the LEDD in patients with EOPD, regardless of their genetic background. However, patients with genetic mutations, especially in <i>PLA2G6</i>, may show a weaker response to DBS, highlighting the need for personalized approaches in DBS therapy for EOPD.</p>

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Effect of deep brain stimulation on early-onset Parkinson’s disease with mutations in a Han Chinese Mainland population

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月5日

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  • Si Chen,
  • Ning Yang,
  • Jinde Liu,
  • Shujun Xu,
  • Shuo Xu,
  • Jiwei Wang,
  • Chao Li,
  • Yi-ming Liu

摘要

Background

The influence of genetic factors on the efficacy of deep brain stimulation (DBS) remains unclear. This study aimed to analyze the effects of DBS in Han Chinese patients with early-onset Parkinson’s disease (EOPD) across various genetic backgrounds and to explore the differences in DBS responsiveness among patients EOPD with and distinct genetic profiles.

Methods

This retrospective study examined 48 patients with EOPD who underwent DBS. Patients were divided into mutation-positive (Mut+) and mutation-negative (Mut-) groups. Clinical evaluations were performed before and 24 months after DBS using the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale, Non-Motor Symptoms Scale for Parkinson’s Disease, and levodopa-equivalent daily dose (LEDD).

Results

In the Mut + group, 16 patients with EOPD carried gene mutations: seven in PRKN, four in GBA, three in PLA2G6, one in LRRK2, and one in PINK1. Fifteen patients had no detectable pathogenic mutations (Mut- group). The two groups had similar baseline demographic characteristics and preoperative clinical features, except for a younger age at onset in the Mut + group. Both the groups derived benefits from DBS surgery, with no statistically significant differences observed between them in terms of motor symptoms improvement and LEDD reduction at 24 months post-DBS. Furthermore, DBS responses varied according to genetic subtype, with the PLA2G6 subgroup demonstrating relatively poor outcomes, especially in terms of non-motor symptoms and axial symptoms. Regarding non-motor symptoms, DBS showed no significant differences in non-motor symptom improvement between the two groups or among the various genetic subgroups.

Conclusions

DBS is effective in improving motor symptoms and reducing the LEDD in patients with EOPD, regardless of their genetic background. However, patients with genetic mutations, especially in PLA2G6, may show a weaker response to DBS, highlighting the need for personalized approaches in DBS therapy for EOPD.