The Cerebellum

, Volume 11, Issue 2, pp 549–556

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

Authors

    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Instituto Israelita de Ensino e Pesquisa Albert EinsteinHospital Israelita Albert Einstein
  • José Luiz Pedroso
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Instituto Israelita de Ensino e Pesquisa Albert EinsteinHospital Israelita Albert Einstein
  • Helena Alessi
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Lívia Almeida Dutra
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Instituto Israelita de Ensino e Pesquisa Albert EinsteinHospital Israelita Albert Einstein
  • André Carvalho Felício
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Thaís Minett
    • Department of Preventive MedicineUniversidade Federal de São Paulo
    • Department of Public Health and Primary CareUniversity of Cambridge
  • Patrícia Weisman
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Ruth F. Santos-Galduroz
    • Center of Mathematics, Computer and CognitionUniversidade Federal do ABC
    • Institute of Biosciences, UNESP
  • Paulo Henrique F. Bertolucci
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Alberto Alain Gabbai
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Instituto Israelita de Ensino e Pesquisa Albert EinsteinHospital Israelita Albert Einstein
  • Orlando Graziani Povoas Barsottini
    • Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Instituto Israelita de Ensino e Pesquisa Albert EinsteinHospital Israelita Albert Einstein
Original Paper

DOI: 10.1007/s12311-011-0318-6

Cite this article as:
Braga-Neto, P., Pedroso, J.L., Alessi, H. et al. Cerebellum (2012) 11: 549. doi:10.1007/s12311-011-0318-6

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

Copyright information

© Springer Science+Business Media, LLC 2011