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Case Reports in Neurological Medicine
Volume 2018 (2018), Article ID 5802650, 3 pages
Case Report

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg)] Causing Episodic Ataxia Type 2

Wellington Hospital, Wellington, New Zealand

Correspondence should be addressed to Sean Lance

Received 22 December 2017; Accepted 11 February 2018; Published 11 March 2018

Academic Editor: Majaz Moonis

Copyright © 2018 Sean Lance et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.