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Cerebellar Cognitive Affective Syndrome in Machado Joseph Disease: Core Clinical Features

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Abstract

The cerebellum is no longer considered a purely motor control device, and convincing evidence has demonstrated its relationship to cognitive and emotional neural circuits. The aims of the present study were to establish the core cognitive features in our patient population and to determine the presence of Cerebellar Cognitive Affective Syndrome (CCAS) in this group. We recruited 38 patients with spinocerebellar ataxia type 3 (SCA3) or Machado–Joseph disease (MJD)-SCA3/MJD and 31 controls. Data on disease status were recorded (disease duration, age, age at onset, ataxia severity, and CAG repeat length). The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. The neuropsychological assessment consisted of the Mini-Mental State Examination, Clock Drawing Test, Wechsler Adult Intelligence Scale, Rey–Osterrieth Complex Figure, Wisconsin Card Sorting Test, Stroop Color–Word Test, Trail-Making Test, Verbal Paired Associates, and verbal fluency tests. All subjects were also submitted to the Hamilton Anxiety Scale and Beck Depression Inventory. After controlling for multiple comparisons, spatial span, picture completion, symbol search, Stroop Color–Word Test, phonemic verbal fluency, and Trail-Making Tests A and B were significantly more impaired in patients with SCA3/MJD than in controls. Executive and visuospatial functions are impaired in patients with SCA3/MJD, consistent with the symptoms reported in the CCAS. We speculate on a possible role in visual cortical processing degeneration and executive dysfunction in our patients as a model to explain their main cognitive deficit.

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Acknowledgments

This study was supported by the Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP). We would like to thank the patients and their families for participating in this study. The authors also would like to thank Dr. Jeremy Schmahmann for his comments and suggestions on this manuscript.

Conflict of Interest

We have no conflicts of interest.

Protection of Human Research Subjects and Human Subject Informed Consent

The procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national). All subjects were provided with the approved informed consent.

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Authors and Affiliations

  1. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, 650 Pedro de Toledo St., Vila Clementino, São Paulo, São Paulo, 04039-002, Brazil

    Pedro Braga-Neto, José Luiz Pedroso, Helena Alessi, Lívia Almeida Dutra, André Carvalho Felício, Patrícia Weisman, Paulo Henrique F. Bertolucci, Alberto Alain Gabbai & Orlando Graziani Povoas Barsottini

  2. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo, Brazil

    Pedro Braga-Neto, José Luiz Pedroso, Lívia Almeida Dutra, Alberto Alain Gabbai & Orlando Graziani Povoas Barsottini

  3. Department of Preventive Medicine, Universidade Federal de São Paulo, São Paulo, Brazil

    Thaís Minett

  4. Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK

    Thaís Minett

  5. Center of Mathematics, Computer and Cognition, Universidade Federal do ABC, São Paulo, Brazil

    Ruth F. Santos-Galduroz

  6. Institute of Biosciences, UNESP, Campus of Rio Claro/SP, Rio Claro, Brazil

    Ruth F. Santos-Galduroz

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  1. Pedro Braga-Neto
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  2. José Luiz Pedroso
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  5. André Carvalho Felício
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  7. Patrícia Weisman
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  8. Ruth F. Santos-Galduroz
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  9. Paulo Henrique F. Bertolucci
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  10. Alberto Alain Gabbai
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  11. Orlando Graziani Povoas Barsottini
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Correspondence to Pedro Braga-Neto.

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Braga-Neto, P., Pedroso, J.L., Alessi, H. et al. Cerebellar Cognitive Affective Syndrome in Machado Joseph Disease: Core Clinical Features. Cerebellum 11, 549–556 (2012). https://doi.org/10.1007/s12311-011-0318-6

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  • DOI: https://doi.org/10.1007/s12311-011-0318-6

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