Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Genes Pub Date : 2025-03-13 DOI:10.3390/genes16030335

Haruo Shimazaki

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引用次数: 0

Abstract

Background: Episodic ataxia type 2 (EA2) is a rare disorder characterized by paroxysmal gait instability, dysarthria, and dizziness. It is caused by CACNA1A 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.

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来源期刊

Genes GENETICS & HEREDITY-

CiteScore

5.20

自引率

5.70%

发文量

1975

审稿时长

22.94 days

期刊介绍： Genes (ISSN 2073-4425) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to genes, genetics and genomics. It publishes reviews, research articles, communications and technical notes. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.