Angular vestibulo ocular reflex loss with preserved saccular function in Machado-Joseph disease.

Abstract Objective To provide a comprehensive evaluation of the vestibular function in Machado-Joseph Disease (MJD). Methods 21 MJD patients and 19 healthy Controls underwent a detailed clinical neuro-otological evaluation including VOR gain of all six semicircular canals by video Head Impulse Test (vHIT), remaining horizontal VOR function by Suppression Head Impulse test (SHIMP), and saccular function by cervical Vestibular Evoked Myogenic Potentials (cVEMP). Results All MJD had significantly lower VOR gain in all six semicircular canals (p  Conclusions Horizontal and vertical VOR impairment with preserved sacculo-collic function seems to be a distinctive feature of MJD and could be explained by selective, mostly medial and superior vestibular nuclei degeneration. This study further supports the idea that horizontal VOR gain measured by vHIT could be a potential neurophysiological biomarker of MJD.