Thiago Yoshinaga Tonholo Silva, Vinícius Lopes Braga, Victor Rebelo Procaci, Luane Abdalla Gouvêa, Leonardo Furtado Freitas, Darine Christina Maia Villela, Michele Patricia Migliavacca, José Ricardo Magliocco Ceroni, André Macedo Serafim Silva, João Bosco Oliveira, Cláudia Ferreira da Rosa Sobreira, Orlando Graziani Povoas Barsottini, José Luiz Pedroso
{"title":"Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.","authors":"Thiago Yoshinaga Tonholo Silva, Vinícius Lopes Braga, Victor Rebelo Procaci, Luane Abdalla Gouvêa, Leonardo Furtado Freitas, Darine Christina Maia Villela, Michele Patricia Migliavacca, José Ricardo Magliocco Ceroni, André Macedo Serafim Silva, João Bosco Oliveira, Cláudia Ferreira da Rosa Sobreira, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1007/s12311-025-01828-9","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"73"},"PeriodicalIF":2.7000,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cerebellum","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12311-025-01828-9","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.
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.
期刊介绍：
Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction.
The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging.
The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
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