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早发性帕金森病伴 GBA 突变患者中左旋多巴诱导的眼部运动障碍。

Levodopa-Induced Ocular Dyskinesia in an Early-Onset Parkinson Disease Patient With GBA Mutation.

机构信息

Departments of Pharmacy.

Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

出版信息

Clin Neuropharmacol. 2021;44(6):201-204. doi: 10.1097/WNF.0000000000000484.

Abstract

OBJECTIVES

The aim of this study was to report a case of levodopa-induced ocular dyskinesia in an early-onset Parkinson disease patient and to investigate the pathogenic gene.

METHODS

We report the case of a 49-year-old male patient with a 13-year history of Parkinson disease. Involuntary eye movements were noticed after treatment with amantadine for limb dyskinesias. Levodopa-induced ocular dyskinesias involving repetitive, transient, and stereotyped rightward deviations of gaze appeared after intake of an antiparkinsonian drug. Limb dyskinesias also occurred simultaneously. We used a next-generation sequencing targeted gene panel and found a heterozygous missense mutation (p.R535H) in GBA. Direct Sanger sequencing verified the missense mutation.

CONCLUSIONS

We report the case of an uncommon early-onset PD patient carrying a GBA mutation presenting ocular dyskinesia. Genetic screening may provide a better mechanistic insight into dyskinesias.

摘要

目的

本研究旨在报告一例早发性帕金森病患者左旋多巴诱导性眼球运动障碍病例,并探讨其致病基因。

方法

我们报告了一例 49 岁男性患者,帕金森病病史 13 年。在因肢体运动障碍而接受金刚烷胺治疗后,出现不自主眼球运动。在服用抗帕金森病药物后,出现了复发性、短暂性和刻板性的右侧眼球向右偏斜的左旋多巴诱导性眼球运动障碍。同时也出现了肢体运动障碍。我们使用了下一代测序靶向基因 panel,并在 GBA 中发现了一个杂合错义突变(p.R535H)。直接 Sanger 测序证实了该错义突变。

结论

我们报告了一例携带 GBA 突变的罕见早发性 PD 患者,表现为眼球运动障碍。基因筛查可能为运动障碍提供更好的机制见解。

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