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Cognitive and social cognitive functioning in spinocerebellar ataxia

A preliminary characterization

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Abstract

Introduction

The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a cognitive as well as motor role for the cerebellum. Recent suggestions of cerebellar involvement in social cognition have not been extensively explored in these conditions. The availability of definitive molecular diagnosis allows genetically defined subgroups of SCA patients, with distinct patterns of cerebellar and extracerebellar involvement, to be tested comparatively using a common battery of tests of general, social and emotional cognition.

Methods:

Nine patients with SCA6, and 6 with SCA3 were assessed using a comprehensive battery of neuropsychological instruments, encompassing domains of memory, language, visuo-spatial skills, calculation, attention and executive function, emotional processing and theory of mind (ToM).

Results

There were no deficits in visuo-spatial processing or calculation in either group, while individuals with naming and attentional difficulties were seen in both. Deficits in memory and executive function were present in both conditions, albeit more pronounced in SCA3. By contrast, both groups demonstrated consistently poor performance on ToM tests, and normal attribution of social and emotional responses.

Conclusion

The data support the hypothesis that the cerebellum is important for cognitive as well as motor activity. The pattern of overlap of domain impairments provides tentative preliminary evidence that there is a cerebellar contribution to aspects of memory and executive function and ToM, and that other domains depend more on neural system outside the cerebellum. The findings relating to ToM are relevant to the possibility of cerebellar involvement in autism.

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Authors and Affiliations

  1. Institute of Cognitive Neuroscience, 17 Queen Square, London, WC1N 3AR, UK

    P. Garrard MD, PhD

  2. Dept. of Clinical Neurosciences, Royal Free Hospital, London, UK

    P. Garrard MD, PhD

  3. Dept. of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    N. H. Martin BSc

  4. Institute of Neurology, Queen Square, London, WC1N 3BG, UK

    P. Giunti MD, PhD

  5. Dept. of Neuropsychology, National Hospital for Neurology and Neurosurgery, 37, Queen Square, London, WC1N 3BG, UK

    L. Cipolotti PhD

  6. Dipartimento Di Psicologia, Universita Degli Studi di Palermo, Italy

    L. Cipolotti PhD

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  1. P. Garrard MD, PhD
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  2. N. H. Martin BSc
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  3. P. Giunti MD, PhD
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  4. L. Cipolotti PhD
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Garrard, P., Martin, N.H., Giunti, P. et al. Cognitive and social cognitive functioning in spinocerebellar ataxia. J Neurol 255, 398–405 (2008). https://doi.org/10.1007/s00415-008-0680-6

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  • DOI: https://doi.org/10.1007/s00415-008-0680-6

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