Long-term outcome of deep brain stimulation in KMT2B gene-related dystonia
10.3760/cma.j.cn113694-20240624-00430
- VernacularTitle:应用脑深部电刺激术治疗 KMT2B基因相关肌张力障碍的长期随访研究
- Author:
Mengyu ZHANG
1
;
Lin WANG
;
Yi GUO
;
Yingmai YANG
;
Lei QIAO
;
Xinhua WAN
Author Information
1. 中国医学科学院北京协和医院神经科，北京 100730
- Publication Type:Journal Article
- Keywords:
Deep brain stimulation;
Prognosis;
KMT2B gene-related dystonia
- From:
Chinese Journal of Neurology
2025;58(3):269-276
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the long-term outcome of deep brain stimulation (DBS) in patients with KMT2B gene-related dystonia. Methods:Seven patients with KMT2B gene-related dystonia who were treated at Peking Union Medical College Hospital from April 2018 to December 2020 were enrolled. Whole-exome sequencing was used to detect genetic variations, and clinical phenotypes were summarized. All patients underwent DBS surgery and were followed up at 6 months, 3 years, and 5 years post-surgery. The therapeutic effects of DBS were evaluated by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), including BFMDRS Motor Subscale (BFMDRS-M) and Disability Subscale (BFMDRS-D). Results:The preoperative BFMDRS-M and BFMDRS-D scores were 60.43±27.12 and 17.00±6.24, respectively. The most significant improvements were observed at 6 months post-surgery, with the BFMDRS-M and BFMDRS-D scores being 20.64±5.50 and 9.57±1.72, reflecting improvements of 65.8% and 43.7%, respectively, both with statistically significant differences ( t=4.342, P=0.005; t=2.828, P=0.030). At 3 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 26.20±8.68 and 10.50±2.74, representing improvements of 56.7% ( t=3.045, P=0.029) and 38.2% ( t=2.012, P=0.100), respectively. At 5 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 27.80±14.87 and 11.00±2.83, with improvements of 54.0% ( t=1.824, P=0.142) and 35.3% ( t=1.933, P=0.125), respectively. At the 5-year postoperative follow-up, the patients′ cervical dystonia improved by 78.9%, while the upper limbs, lower limbs, and trunk dystonia improved by 57.8%, 56.6%, and 58.0%, respectively. However, only 1 patient showed significant improvement in the language function. Conclusions:DBS showed good therapeutic effects on KMT2B gene-related dystonia, but the efficacy declined over time. Significant improvements were observed in patients′ cervical, limb and trunk dystonia, but the improvement in language function was not significant.
