Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series – PubMed Black Hawk Supplements

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

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

Haruo Shimazaki. Genes (Basel). .

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.

Keywords: CACNA1A gene; acetazolamide; episodic ataxia type 2; levetiracetam; spinocerebellar ataxia type 6.

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Conflict of interest statement

The author declares no conflicts of interest.

Figures

Figure 1
Figure 1

Family trees of the episodic ataxia patients: (a) Case 1 (II-1), (b) Case 2 (III-1), (c) Case 3 (III-1). Cases 1 and 3 had no obvious family history. The family of Case 2 included patients with ataxia (II-4) and absence seizure (III-2) with the same CACNA1A variant (p.W1835*).

Figure 2
Figure 2

Brain MRI findings of the three patients. (a) Case 1, (b) Case 2, (c) Case 3. T1-weighted axial and sagittal images show mild upper cerebellar vermian atrophy.

Figure 3
Figure 3

Sequence analyses of CACNA1A in Cases 1 and 2. (a). A heterozygous 2 bp deletion variant (NM_001127222.2: c.2039-40 del AG (blue box), p.Q680R fs*16) was identified in Case 1. (b). A heterozygous nonsense variant (NM_001127222.2: c.5505G>A (red arrow), p.W1835*) was detected in Case 2. This variant was also detected in his mother (Figure 1b II-4) and sister (Figure 1b III-2).

Figure 4
Figure 4

Number of episodic ataxia attacks before and after levetiracetam administration. The number of episodic ataxia attacks was significantly reduced after levetiracetam administration in Case 1 (a) and Case 2 (b), and slightly reduced in Case 3 (c). (Unpaired t-test: **** p < 0.0001, ** p < 0.01.)

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