Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation.

IF 0.9 Q4 CLINICAL NEUROLOGY

Case Reports in Neurological Medicine Pub Date : 2019-11-29 eCollection Date: 2019-01-01 DOI:10.1155/2019/3154653

Lizl Lasky, Lindsay Bliss, Christos Sidiropoulos

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引用次数: 5

Abstract

Background: Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown.

Methods: We present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene.

Results: Ongoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission.

Conclusion: This only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings.

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一种新的ANO3突变导致的广泛性肌张力障碍的成功的苍白深部脑刺激治疗。

背景:肌张力障碍是一种普遍存在的综合征，越来越多的基因被不断发现。anoctamin-3基因的突变已被描述为引起肌张力障碍，但其管理和长期结果仍在很大程度上未知。方法:我们在这里提出了一个长期的，纵向随访的全身性肌张力障碍患者，谁接受治疗的双侧苍白深部脑刺激，并被发现在anoctamin-3基因突变。结果:持续调整刺激设置和药物导致良好和持续的肌张力障碍控制;然而，患者确实有短期复发，表现为张力障碍危象，需要住院治疗。结论:这是报告的第二例伴有白斑刺激和氨基辛酰胺-3基因突变的患者。长期结果似乎是有利的，但需要更大的病例系列来证实我们的发现。

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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来源期刊

Case Reports in Neurological Medicine CLINICAL NEUROLOGY-

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审稿时长

11 weeks