alexa A Case of Episodic Ataxia Type-2 with a Novel Gene Muta
ISSN: 2329-6895

Journal of Neurological Disorders
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Case Report

A Case of Episodic Ataxia Type-2 with a Novel Gene Mutation and Complex Phenotype

Rossi FH1*, Rossi EM1, Gonzalez E1, Franco MC2and Estevez AG2
1Department of Neurology, Veteran Health Care System, Orlando, P.O. Box: 32827, Florida, USA
2Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, P.O. Box: 32827, Florida, USA
Corresponding Author : Fabian H. Rossi
Orlando VA Medical Center Lake Nona VAMC
13800 Veterans Way, Orlando, Florida
P.O. Box: 32827
Tel: 4077196245
Fax: 4076311977
E-mail: [email protected]
Received September 15, 2015; Accepted October 17, 2015; Published October 20, 2015
Citation:Rossi FH, Rossi EM, Gonzalez E, Franco MC, Estevez AG (2015)A Case of Episodic Ataxia Type-2 with a Novel Gene Mutation and Complex Phenotype. J Neurol Disord S2:004. doi:10.4172/2329-6895.S2-004
Copyright: ©2015 Rossi FH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

We report the case of 66-year-old male with episodic ataxia type 2 carrying a novel CACNA1A gene mutation affected with a new and heterogeneous phenotype. The patient presented with intermittent episodes of ataxia, dysarthria, and vertigo since childhood. The patient also had atypical features of perioral numbness, right facial drooling, and bilateral upper limb action tremor. The cerebellar ataxia episodes significantly increased in frequency with age, but entirely remitted with acetazolamide treatment.

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