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Ocular Motor Fixation Deficits in Friedreich Ataxia

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Abstract

Friedreich ataxia (FRDA) is the most common genetic cause of ataxia with a prevalence of approximately 1 in 29,000. Ocular motor abnormalities are common in FRDA and include fixation instability, saccadic dysmetria, and vestibular dysfunction. It has not yet been determined whether aspects of spatial attention, which are closely coupled to eye movements, are similarly compromised in FRDA. This study examined attentional engagement and disengagement of eye movements in FRDA using a gap overlap task. Thirteen individuals with genetically confirmed FRDA and 12 age-matched unaffected controls participated in the experiment. The gap overlap paradigm was used to examine the effect of early (gap condition), simultaneous (null condition), or late (overlap condition) removal of a central fixation on saccadic latency to a peripheral target stimulus. Although the FRDA group showed a larger gap effect (i.e., difference in saccadic latencies between the overlap and gap condition), these participants demonstrated a greater difference in latencies in the overlap relative to the null condition, suggestive of deficits within the disengagement process of attentional orienting. We propose a role for the cerebellum in these deficits in the disengagement of spatial attention based on evidence of cerebellar connectivity with regions involved in exogenous shifts of attention. The significant correlations between saccadic latency and disease severity as measured by the Friedreich Ataxia Rating Scale further support the proposal that saccadic latency might be useful as a surrogate marker of disease severity and progression in future clinical trials in FRDA.

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Acknowledgements

We thank the participants, who willingly gave their time and continue to support our research. This research was supported by the National Health and Medical Research Council Australia (JF #454811, MBD #546452), the Friedreich Ataxia Research Association, Australasia, and the Friedreich Ataxia Research Alliance, USA.

Conflict of interest

The authors declare no conflict of interest with respect to this article.

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Authors and Affiliations

  1. Bruce Lefroy Center for Genetic Health Research, Murdoch Children’s Research Institute, Parkville, Victoria, Australia

    Darren R. Hocking, Louise A. Corben & Martin B. Delatycki

  2. Center for Neuroscience, University of Melbourne, Parkville, Victoria, Australia

    Joanne Fielding

  3. Department of Neurology, Royal Melbourne Hospital, Parkville, Victoria, Australia

    Joanne Fielding, Lynette Millist & Owen B. White

  4. Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia

    Louise A. Corben

  5. Department of Neurology, Royal North Shore Hospital, St Leonard, New South Wales, Australia

    Phillip D. Cremer

  6. Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia

    Martin B. Delatycki

  7. Developmental Neuroscience and Genetic Disorders Laboratory, School of Psychology and Psychiatry, Monash University, Clayton Road, Clayton, Victoria, 3800, Australia

    Darren R. Hocking

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  1. Darren R. Hocking
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Correspondence to Darren R. Hocking.

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Hocking, D.R., Fielding, J., Corben, L.A. et al. Ocular Motor Fixation Deficits in Friedreich Ataxia. Cerebellum 9, 411–418 (2010). https://doi.org/10.1007/s12311-010-0178-5

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