Therapy of episodic ataxias: case report and review of the literature

Article Details

Authors
Daniele Orsucci MD, Laura Maria Raglione MD, Monica Mazzoni MD, Marco Vista MD

Article Type
Review

DOI
10.7573/dic.212576

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Abstract

Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Specific pharmacological therapies are available for EA1 and especially EA2. We briefly discuss the case of an Italian young man with EA2, with a novel de novo CACNA1A mutation, who in our opinion is particularly illustrative for introducing the therapeutic approach. Acetazolamide could fully suppress EA episodes in our patient. We also provide a perspective review of the topic. 4-Aminopyridine is another valid treatment option. For EA1 (and for rarer EAs), the therapeutic possibilities are more limited. Carbamazepine is probably the treatment of choice for EA1, but the optimal treatment plan is unknown. A better understanding of the molecular processes involved in the mediation of EAs will lead to more specific and efficacious therapies for this still elusive group of disorders.

Keywords: acetazolamide, ataxia, CACNA1A, episodic ataxia, episodic ataxia type 1, episodic ataxia type 2.

Citation: Orsucci D, Raglione LM, Mazzoni M, Vista M. Therapy of episodic ataxias: case report and review of the literature. Drugs in Context 2019; 8: 212576. DOI: 10.7573/dic.212576

Contributions: All authors contributed to the preparation of this review. All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole, and have given their approval for this version to be published.

Disclosure and potential conflicts of interest: The authors declare that they have no conflicts of interest. The International Committee of Medical Journal Editors (ICMJE) Potential Conflicts of Interests form for the authors are available for download at https://www.drugsincontext.com/wp-content/uploads/2019/02/dic.212576-COI.pdf

Acknowledgements: None.

Funding declaration: There was no funding associated with the preparation of this article.

Copyright: Copyright © 2019 Orsucci D, Raglione LM, Mazzoni M, Vista M. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0 which allows anyone to copy, distribute, and transmit the article provided it is properly attributed in the manner specified below. No commercial use without permission.

Correct attribution: Copyright © 2019 Orsucci D, Raglione LM, Mazzoni M, Vista M. https://doi.org/10.7573/dic.212576. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0.

Article URL: https://drugsincontext.com/therapy-of-episodic-ataxias:-case-report-and-review-of-the-literature

Correspondence: Daniele Orsucci, Unit of Neurology, San Luca Hospital of Lucca, Via Lippi-Francesconi, 55100 Lucca, Italy. orsuccid@gmail.com

Provenance: invited; externally peer reviewed.

Submitted: 11 December 2018; Peer review comments to author: 12 February 2019; Revised manuscript received: 15 February 2019; Accepted: 18 February 2019; Publication date: 11 March 2019.

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