左乙拉西坦对伴发作性共济失调症状的发作性共济失调2型和脊髓小脑共济失调6型的影响：病例系列
Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.
作者信息
Shimazaki Haruo
机构信息
Department of Common Education, Faculty of Health and Medical Care, Saitama Medical University, Saitama 350-1241, Japan.
Department of Neurology, Jichi Medical University, Tochigi 329-0498, Japan.
出版信息
Genes (Basel). 2025 Mar 13;16(3):335. doi: 10.3390/genes16030335.
BACKGROUND
Episodic ataxia type 2 (EA2) is a rare disorder characterized by paroxysmal gait instability, dysarthria, and dizziness. It is caused by mutations. Spinocerebellar ataxia type 6 (SCA6) rarely causes episodic ataxia-like symptoms. Acetazolamide has limited effectiveness for treating episodic ataxia.
METHODS
We investigated the effect of drug therapy in two patients with EA2 and one patient with SCA6 who presented with episodic ataxia. All three cases were CACNA1A-associated diseases.
RESULTS
In these three cases, acetazolamide administration was partially and transiently effective for episodic ataxia attacks. After levetiracetam addition, the number of ataxic attacks was significantly reduced, although the durations of attacks were not changed. The effect of levetiracetam was stable and continued for seven years. Levetiracetam and acetazolamide reduced chronic cerebellar ataxia in an SCA6 patient.
CONCLUSIONS
In this small number of cases, levetiracetam was considered effective in two patients with EA2 and mildly effective in one patient with SCA6.
背景
发作性共济失调2型（EA2）是一种罕见疾病，其特征为阵发性步态不稳、构音障碍和头晕。它由基因突变引起。6型脊髓小脑共济失调（SCA6）很少引起发作性共济失调样症状。乙酰唑胺治疗发作性共济失调的效果有限。
方法
我们研究了药物治疗对两名EA2患者和一名表现为发作性共济失调的SCA6患者的影响。所有三例均为与CACNA1A相关的疾病。
结果
在这三例中，乙酰唑胺给药对发作性共济失调发作有部分且短暂的疗效。加用左乙拉西坦后，共济失调发作次数显著减少，尽管发作持续时间未改变。左乙拉西坦的疗效稳定且持续了七年。左乙拉西坦和乙酰唑胺减轻了一名SCA6患者的慢性小脑共济失调。
结论
在这少数病例中，左乙拉西坦被认为对两名EA2患者有效，对一名SCA6患者有轻度疗效。
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