Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders
Thiago Yoshinaga Tonholo Silva1,2, Vinícius Lopes Braga1, Victor Rebelo Procaci1
1Departament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Abstract:
ANO10-related ataxia is characterized by cerebellar and pyramidal signs, with prominent oculomotor abnormalities, including saccadic abnormalities, strabismus, and ptosis. While nystagmus is frequently observed, the specific subtype of horizontal pendular nystagmus has not been emphasized. This report describes two siblings with early-onset spastic-ataxia with horizontal pendular nystagmus, ultimately diagnosed with SCAR10. This report details the ocular abnormalities spectrum of ANO10-related ataxia by highlighting horizontal pendular nystagmus as a significant clinical feature in early-onset presentations. We also restate the importance of neurological examination, including detailed assessment of ocular movements, for accurate diagnosis and management of hereditary ataxias.
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