The Cerebellum

, Volume 11, Issue 4, pp 1037–1044 | Cite as

Cognitive Deficits in Machado–Joseph Disease Correlate with Hypoperfusion of Visual System Areas

  • Pedro Braga-Neto
  • Lívia Almeida Dutra
  • José Luiz Pedroso
  • André C. Felício
  • Helena Alessi
  • Ruth F. Santos-Galduroz
  • Paulo Henrique F. Bertolucci
  • Mário Luiz V. Castiglioni
  • Rodrigo Affonseca Bressan
  • Griselda Esther Jara de Garrido
  • Orlando Graziani Povoas Barsottini
  • Andrea Jackowski
Original Paper


Cognitive and olfactory impairments have previously been demonstrated in patients with spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease (MJD)—SCA3/MJD. We investigated changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) imaging in a cohort of Brazilian patients with SCA3/MJD. The aim of the present study was to evaluate the correlation among rCBF, cognitive deficits, and olfactory dysfunction in SCA3/MJD. Twenty-nine genetically confirmed SCA3/MJD patients and 25 control subjects were enrolled in the study. The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. Psychiatric symptoms were evaluated by the Hamilton Anxiety Scale and Beck Depression Inventory. The neuropsychological assessment consisted of Spatial Span, Symbol Search, Picture Completion, the Stroop Color Word Test, Trail Making Test (TMT), and Phonemic Verbal Fluency. Subjects were also submitted to odor identification evaluation using the 16-item Sniffin’ Sticks. SPECT was performed using ethyl cysteine dimer labeled with technetium-99m. SCA3/MJD patients showed reduced brain perfusion in the cerebellum, temporal, limbic, and occipital lobes compared to control subjects (pFDR <0.001). A significant positive correlation was found between the Picture Completion test and perfusion of the left parahippocampal gyrus and basal ganglia in the patient group as well as a negative correlation between the TMT part A and bilateral thalamus perfusion. The visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease.


Machado–Joseph disease Spinocerebellar ataxia type 3 Cognition Olfaction Cognitive deficits SPECT 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Pedro Braga-Neto
    • 1
    • 2
    • 8
  • Lívia Almeida Dutra
    • 1
    • 2
  • José Luiz Pedroso
    • 1
  • André C. Felício
    • 1
  • Helena Alessi
    • 2
  • Ruth F. Santos-Galduroz
    • 3
    • 4
  • Paulo Henrique F. Bertolucci
    • 2
  • Mário Luiz V. Castiglioni
    • 5
  • Rodrigo Affonseca Bressan
    • 6
  • Griselda Esther Jara de Garrido
    • 7
  • Orlando Graziani Povoas Barsottini
    • 1
  • Andrea Jackowski
    • 6
  1. 1.Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São PauloSão PauloBrazil
  2. 2.Behavior Neurology Section, Department of Neurology and NeurosurgeryUniversidade Federal de São PauloSão PauloBrazil
  3. 3.Center of Mathematics, Computer and Cognition–Universidade Federal do ABC, UFABCSão PauloBrazil
  4. 4.Institute of Biosciences, UNESPRio ClaroBrazil
  5. 5.Section of Nuclear Medicine, Department of RadiologyUniversidade Federal de São PauloSão PauloBrazil
  6. 6.Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Department of PsychiatryUniversidade Federal de São PauloSão PauloBrazil
  7. 7.Western Australian Centre for Health & Ageing, Centre for Medical ResearchUniversity of Western AustraliaCrawleyAustralia
  8. 8.São PauloBrazil

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