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Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
International Journal of Neuroscience ( IF 2.2 ) Pub Date : 2020-10-20 , DOI: 10.1080/00207454.2020.1835896
Melike Batum 1 , Ayşın Kısabay Ak 1 , Güldeniz Çetin 1 , Hamide Betül Gerik Çelebi 2 , Sırrı Çam 2 , Hatice Mavioğlu 1
Affiliation  

Abstract

Introduction

Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last minutes to hours. It can be inherited or sporadic, and it can be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases.

Methods

In this article, we present a case of a patient who had a coincidental occurrence of episodic ataxia type 2 (EA2) and multiple sclerosis (MS) Results: The patient who had a previously unidentified heterozygous mutation in the calcium voltage-gated channel subunit alpha 1 A gene (CACNA1A).

Conclusion

There is no publication in the literature reporting the co-occurrence of MS and EA2. This combination may be coincidental in this patient, or it may be a relationship that has not yet been scientifically revealed.



中文翻译:

偶发性共济失调与多发性硬化症一例报告并文献复习

摘要

介绍

发作性共济失调是一种临床病症,其特点是持续数分钟至数小时的平衡和协调问题发作。可遗传也可散发,在癫痫、基底偏头痛、多发性硬化、椎基底动脉缺血、迷路病中可散发。

方法

在本文中,我们介绍了一名患者偶然发生了 2 型发作性共济失调 (EA2) 和多发性硬化症 (MS) 结果:该患者在钙电压门控通道亚基 α 中具有先前未知的杂合突变1个基因(CACNA1A)。

结论

文献中没有报道 MS 和 EA2 同时发生的出版物。这种组合在这个病人身上可能是巧合,也可能是一种尚未被科学揭示的关系。

更新日期:2020-10-20
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