Early vestibular dysfunction in Machado-Joseph disease detected by caloric test

The selective vulnerability of distinct neuronal structures is a major feature of Machado-Joseph disease (MJD), also known as spinocerebellar ataxia 3 (SCA3). Vestibular dysfunction is known to be a symptom of MJD, but little is known about precisely when the vestibular system becomes impaired. Using a caloric test, we evaluated vestibular function in 2 MJD patients. One developed the initial symptom 1 year before evaluation, and the other 3 years before evaluation. Neither demonstrated a bilateral response in electronystagmography using ice-cold water irrigation, indicating severe vestibular disturbance. These results suggest that vestibular dysfunction is a symptom that develops very early in MJD and may contribute to unsteady gait as the initial symptom. The vestibular system thus appears to be one of the structures most vulnerable to MJD.