Nonmotor and extracerebellar features in Machado-Joseph disease: A review

Authors

  • José Luiz Pedroso MD, PhD,

    Corresponding author
    • Department of Neurology, General Neurology and Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil
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    • These authors contributed equally to this work.

  • Marcondes C. França Jr. MD, PhD,

    1. Department of Neurology, University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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    • These authors contributed equally to this work.

  • Pedro Braga-Neto MD, PhD,

    1. Department of Neurology, General Neurology and Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil
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  • Anelyssa D'Abreu MD, PhD,

    1. Department of Neurology, University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Maria Luiza Saraiva-Pereira PhD,

    1. Department of Biochemistry Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
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  • Jonas A. Saute MD, PhD,

    1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
    2. Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
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  • Hélio A. Teive MD, PhD,

    1. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Paraná, Brazil
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  • Paulo Caramelli MD, PhD,

    1. Cognitive and Behavioral Neurology Unit, Department of Internal Medicine, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
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  • Laura Bannach Jardim MD, PhD,

    1. Department of Biochemistry Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
    3. Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    4. Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
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  • Iscia Lopes-Cendes MD, PhD,

    1. Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas São Paulo, Brazil
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  • Orlando Graziani P. Barsottini MD, PhD

    1. Department of Neurology, General Neurology and Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil
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  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

Corresponence to: Dr. José Luiz Pedroso, Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil; jlpedroso.neuro@gmail.com

ABSTRACT

Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society

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