VIM深部脑刺激治疗polr3a相关小脑综合征震颤患者无长期获益

IF 2.5 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements Pub Date : 2025-04-16 eCollection Date: 2025-01-01 DOI:10.5334/tohm.1003

Ute Scheller, Steffen Paschen, Fabian Maass, Christoph van Riesen

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引用次数: 0

摘要

背景：脑深部刺激是一种被批准的治疗原发性震颤和帕金森病的方法。此外，VIM-DBS在标签外用于治疗不同病因的震颤综合征。病例报告：我们提出一个病例的妇女与药物难治性震颤由于罕见的复合杂合POLR3A突变。她的VIM DBS治疗并没有导致症状的持续改善。讨论：由polr3a相关的小脑综合征引起的震颤可能对VIM DBS没有反应。在神经调节治疗可能更有效的方面，应该更好地研究导致小脑震颤的神经网络。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.

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.

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来源期刊

Tremor and Other Hyperkinetic Movements CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

4.50%

发文量

审稿时长

6 weeks