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Abstract
Episodic ataxia type 2 (EA2) is a rare and underdiagnosed autosomal dominant disorder caused by pathogenic variants of the CACNA1A gene. EA2 presents with episodes of ataxia lasting for hours and may be accompanied by dizziness and nystagmus. Acetazolamide is effective in half of the cases, and a combination of acetazolamide and levetiracetam has been used to treat some adult patients.
Objective: To report 3 patients with EA2, successfully treated with a combination of acetazolamide and levetiracetam.
Clinical Case: Three members of a family had recurrent episodes of gait instability, lasting minutes and occurring several times per week. Intrafamilial phenotypic heterogeneity was evident in clinical manifestations such as intellectual disability, migraine, epilepsy, and nystagmus. After an extensive study and a follow-up of more than five years, a new pathogenic variant in the CACNA1A gene, NM_001127221.1:c.1580T>G (p.Leu527*), associated with EA2, was identified. The three patients responded partially to treatment with acetazolamide; therefore, low-dose levetiracetam was added to two of them, which drastically reduced symptoms.
Conclusions: A Chilean family with EA2 is reported. The genetic study allowed for obtaining an accurate diagnosis and initiating appropriate management with acetazolamide. As a second line, levetiracetam was effective. Further studies are needed to evaluate the efficacy of combining levetiracetam with acetazolamide in pediatric and adult patients, or the use of levetiracetam as monotherapy
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