Original Paper

The Cerebellum

, Volume 11, Issue 2, pp 549-556

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

  • Pedro Braga-NetoAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São PauloInstituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein Email author 
  • , José Luiz PedrosoAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São PauloInstituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein
  • , Helena AlessiAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São Paulo
  • , Lívia Almeida DutraAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São PauloInstituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein
  • , André Carvalho FelícioAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São Paulo
  • , Thaís MinettAffiliated withDepartment of Preventive Medicine, Universidade Federal de São PauloDepartment of Public Health and Primary Care, University of Cambridge
  • , Patrícia WeismanAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São Paulo
  • , Ruth F. Santos-GaldurozAffiliated withCenter of Mathematics, Computer and Cognition, Universidade Federal do ABCInstitute of Biosciences, UNESP
  • , Paulo Henrique F. BertolucciAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São Paulo
    • , Alberto Alain GabbaiAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São PauloInstituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein
    • , Orlando Graziani Povoas BarsottiniAffiliated withDepartment of Neurology and Neurosurgery, Universidade Federal de São PauloInstituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein

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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.

Keywords

Spinocerebellar ataxia type 3 Machado–Joseph disease Cognitive deficits Cerebellar Cognitive Affective Syndrome