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Neurophysiological Studies and Non-Motor Symptoms Prior to Ataxia in a Patient with Machado–Joseph Disease: Trying to Understand the Natural History of Brain Degeneration

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Abstract

Spinocerebellar ataxia type 3 or Machado–Joseph disease is the most common spinocerebellar ataxia. In this neurological disease, anatomical, physiological, clinical, and functional neuroimaging demonstrate a degenerative process besides the cerebellum. We performed neurophysiological and neuroimaging studies—polysomnography, transcranial sonography, vestibular-evoked myogenic potential, single-photon emission computed tomography (SPECT) with 99mTc-TRODAT-1, and a formal neuropsychological evaluation in a patient with sleep complaints and positive testing for Machado–Joseph disease, without cerebellar atrophy, ataxia, or cognitive complaints. Polysomnography disclosed paradoxical high amplitude of submental muscle, characterizing REM sleep without atonia phenomenon. Transcranial sonography showed hyperechogenicity of the substantia nigra. There was an absence of vestibular-evoked myogenic potentials on both sides in the patient under study, in opposite to 20 healthy subjects. Brain imaging SPECT with 99mTc-TRODAT-1 demonstrated a significant lower DAT density than the average observed in six healthy controls. Electroneuromyography was normal. Neuropsychological evaluation demonstrated visuospatial and memory deficits. Impairment of midbrain cholinergic and pontine noradrenergic systems, dysfunction of the pre-synaptic nigrostriatal system, changes in echogenicity of the substantia nigra, and damage to vestibulo-cervical pathways are supposed to occur previous to cerebellar involvement in Machado–Joseph disease.

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Conflict of Interests

We have no conflict of interest.

Funding Statement

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Ethical Statement

Full consent was obtained from the patient and healthy subjects referred herein. This study was approved by our Ethics Institution—Universidade Federal de São Paulo.

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Authors and Affiliations

  1. Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil

    José Luiz Pedroso, Pedro Braga-Neto, Rodrigo Souza Ribeiro, Márcio Luiz Escorcio Bezerra, Lucila B. F. do Prado, Gilberto Mastrocola Manzano, Gilmar Fernandes do Prado & Orlando Graziani Povoas Barsottini

  2. Hospital Israelita Albert Einstein, São Paulo, Brazil

    José Luiz Pedroso, Ilza Rosa Batista & Orlando Graziani Povoas Barsottini

  3. Department of Clinical Neurosurgery, Universidade de São Paulo, São Paulo, Brazil

    Edson Bor-Seng-Shu & Manoel Jacobsen Teixeira

  4. Center of Health Sciences, Universidade Estadual do Ceará, Fortaleza, Ceará, Brazil

    Pedro Braga-Neto

  5. Department of Psychiatry, Universidade Federal de São Paulo, São Paulo, Brazil

    Ilza Rosa Batista

  6. Department of Neurology, Behavior Neurology Section, Universidade Federal de São Paulo, São Paulo, Brazil

    Helena Alessi

Authors
  1. José Luiz Pedroso
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  2. Edson Bor-Seng-Shu
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  3. Pedro Braga-Neto
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  4. Rodrigo Souza Ribeiro
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  5. Márcio Luiz Escorcio Bezerra
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  6. Lucila B. F. do Prado
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  7. Ilza Rosa Batista
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  8. Helena Alessi
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  9. Manoel Jacobsen Teixeira
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  10. Gilberto Mastrocola Manzano
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  11. Gilmar Fernandes do Prado
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  12. Orlando Graziani Povoas Barsottini
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Corresponding author

Correspondence to José Luiz Pedroso.

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Pedroso, J.L., Bor-Seng-Shu, E., Braga-Neto, P. et al. Neurophysiological Studies and Non-Motor Symptoms Prior to Ataxia in a Patient with Machado–Joseph Disease: Trying to Understand the Natural History of Brain Degeneration. Cerebellum 13, 447–451 (2014). https://doi.org/10.1007/s12311-014-0553-8

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  • DOI: https://doi.org/10.1007/s12311-014-0553-8

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