神经系统疾病

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

Abstract

Rossi FH

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.