Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases

Purpose: To report the clinical features and gene mutations in four episodic ataxia type 2 (EA2) patients whose main presentation was recurrent dizziness/vertigo.

Methods: Clinical data of four EA2 patients (three familial EA2 cases and one sporadic case) with recurrent dizziness/vertigo were collected to assess nystagmus and eye movement. Gene mutations were identified by whole exome sequencing.

Results: The three patients in family 1 experienced disease onset before 8 years of age, presented with a chief complaint of episodic dizziness, muscle weakness of the lower limbs and the inability to walk. These symptoms lasted a few hours and then subsided. The proband also had gaze-evoked nystagmus during attacks. Videonystagmography demonstrated that the saccade velocity was low, smooth pursuit was type III, and gain was abnormal at 0.1, 0.2 and 0.4?Hz. An optokinetic nystagmus test showed that the left eye optokinetic nystagmus disappeared, and the right eye optokinetic nystagmus weakened. A head-shaking test produced a left horizontal nystagmus. Gene analysis identified a novel c.1558?+?2T?>?G splice site mutation in the CACNA1A gene in the proband and his mother. The fourth patient was sporadic, with an onset age of 3 years. He mainly suffered from episodic vertigo, accompanied by severe anxiety and depression. He carried a CACNA1A mutation, c.4636C?>?T, which is a previously reported pathogenic mutation.

Conclusions: The onset of symptoms in these EA2 patients was early. The patients mainly presented recurrent dizziness/vertigo, with the absence of characteristic episodic ataxia. Detection of CACNA1A mutations facilitates the diagnosis of EA2.