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Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3

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Abstract

While dynamic ocular motor abnormalities (e.g., gaze-evoked nystagmus (GEN), low optokinetic nystagmus (OKN), pursuit and vestibulo-ocular reflex (VOR) gains, and dysmetric saccades) have been shown to be potential biomarkers in spinocerebellar ataxia type 3 (SCA3), the value of static abnormalities (e.g., convergent [esodeviation] and divergent strabismus [exodeviation]) is unknown. Moreover, studies on dynamic abnormalities in SCA3 usually do not take into account the existence of potential abduction-adduction asymmetries in patients with degenerative ataxia. Thirty-eight patients with genetically confirmed SCA3 (24 females; mean age ± SD, 49.8± 12.2 years) and 22 healthy controls (12 females, p = 0.589; mean age ± SD, 50.7± 12.5 years, p = 0.651) underwent clinical and video-oculographic assessment. A p value < 0.002 (between- and within-group analyses) and < 0.001 (correlation analysis) was considered significant. Patients showed larger esodeviation at distance (p < 0.001), became more esodeviated in lateral gaze (p < 0.001), and their near exodeviation correlated with scale for the assessment and rating of ataxia (SARA) score (p = 0.004). Pursuit, OKN, and VOR gains were lower in patients, both for their adducting and abducting components (p < 0.001). Saccades showed higher velocities (p < 0.001), abducting saccades showed lower amplitude (p < 0.001), and adducting saccades tended to show greater vertical bias (p = 0.018) in patients. Abducting saccades showed relatively lower velocity (p < 0.001) and lower amplitude (p = 0.015) than abducting saccades within patients. All dynamic ocular motor abnormalities except saccades correlated with SARA score, CAG repeat number, and/or disease duration (p < 0.001). Static and dynamic ocular motor abnormalities are potential biomarkers in SCA3. SCA3 studies using saccades should take into account the existence of potential abduction-adduction asymmetries.

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Acknowledgments

We would like to thank the patients, their relatives, and the neurology department staff for participating in the study.

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Author notes

  1. João Lemos and Ana Novo contributed equally to this work.

Authors and Affiliations

  1. Neurology Department, Coimbra University Hospital Centre, Praceta Mota Pinto, 3000-135, Coimbra, Portugal

    João Lemos, Ana Novo, Cristina Duque, Inês Cunha, Joana Ribeiro & Cristina Januário

  2. Coimbra Institute for Clinical and Biomedical Research, Faculty of Medicine, Coimbra University, Coimbra, Portugal

    João Lemos & João Castelhano

  3. Faculty of Medicine, Coimbra University, Coimbra, Portugal

    Cristina Januário

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  1. João Lemos
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  2. Ana Novo
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Contributions

João Lemos: contributed to acquisition, analysis and interpretation of the data, drafting of the manuscript, study supervision, concept and design, and critical revision of manuscript for intellectual content; Ana Novo: contributed to acquisition, analysis and interpretation of the data, drafting of the manuscript, and critical revision of manuscript for intellectual content; Cristina Duque: contributed to acquisition and analysis and interpretation of the data; Inês Cunha: contributed to acquisition and analysis and interpretation of the data; Joana Ribeiro: contributed to acquisition and analysis and interpretation of the data; João Castelhano: contributed to acquisition and analysis and interpretation of the data; Cristina Januário: contributed to analysis and interpretation of the data, study concept and design, and critical revision of manuscript for intellectual content.

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Correspondence to João Lemos.

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João Lemos, MD, PhD and João Castelhano, MBE, PhD conducted the statistical analysis

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Lemos, J., Novo, A., Duque, C. et al. Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3. Cerebellum 20, 402–409 (2021). https://doi.org/10.1007/s12311-020-01217-4

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  • DOI: https://doi.org/10.1007/s12311-020-01217-4

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