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- Title
Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report.
- Authors
Taylor, Rachael L.; Antunovich, Tonci; Chang, Thomas Ming Hong; Rodrigues, Miriam; Baker, Ashleigh; Bergin, Peter; McGuinness, Ben; Roxburgh, Richard H.
- Abstract
The patient with CANVAS has a decreased VVOR gain and multiple compensatory (catch-up) refixation saccades; VORS is paradoxically normal (low gain) as there is no VOR to suppress. If the eye movement reflex is inadequate, the patient will be unable to keep their eyes steady on the target as the eyes move together with the head, and they will need to generate refixation saccades. ARCA3, due to a mutation in the I ANO10 i gene, was first identified in 3 Dutch siblings with ataxia and down-beat nystagmus [[7]] though the latter feature is not universal [[8]]; a subsequent case series has also found mild restriction of vertical eye movements in some patients [[8]]. An examiner, while moving the patients head quickly (VOR) or slowly (VVOR), observes the patients' eyes for refixation saccades as they attempt to fixate on a stationary, earth-referenced target.
- Subjects
VESTIBULO-ocular reflex; CEREBELLUM degeneration; CEREBELLAR ataxia; SPINOCEREBELLAR ataxia; VESTIBULAR function tests
- Publication
Journal of Neurology, 2023, Vol 270, Issue 2, p1154
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-022-11422-2