对一名患有POLR3A相关小脑综合征的患者进行丘脑腹中间核深部脑刺激治疗震颤，未获得长期益处。
Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.
作者信息
Scheller Ute, Paschen Steffen, Maass Fabian, van Riesen Christoph
机构信息
University Medical Center Göttingen, Department of Neurology, Göttingen, Germany.
Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel Germany.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2025 Apr 16;15:15. doi: 10.5334/tohm.1003. eCollection 2025.
BACKGROUND
Deep brain stimulation is an approved therapy for essential tremor and Parkinson's disease. In addition, VIM-DBS is used off-label for the treatment of tremor syndromes with a different etiology.
CASE REPORT
We present the case of a woman with a drug-refractory action tremor due to rare compound heterozygous POLR3A mutations. Her treatment with VIM DBS did not lead to a sustained improvement of symptoms.
DISCUSSION
Tremor due to POLR3A-related cerebellar syndromes may not be responsive to VIM DBS. The networks contributing to cerebellar tremor should be better investigated in terms of where neuromodulatory therapy might be more effective.
背景
深部脑刺激是治疗特发性震颤和帕金森病的一种已获批准的疗法。此外，腹中间核-深部脑刺激（VIM-DBS）还被用于未经批准的治疗不同病因的震颤综合征。
病例报告
我们报告了一名因罕见的复合杂合性POLR3A突变而导致药物难治性动作性震颤的女性病例。她接受VIM-DBS治疗后症状并未持续改善。
讨论
POLR3A相关小脑综合征引起的震颤可能对VIM-DBS无反应。就神经调节疗法可能更有效的部位而言，对导致小脑震颤的神经回路应进行更好的研究。
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