The Cerebellum

, Volume 13, Issue 4, pp 447–451 | Cite as

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

  • José Luiz Pedroso
  • Edson Bor-Seng-Shu
  • Pedro Braga-Neto
  • Rodrigo Souza Ribeiro
  • Márcio Luiz Escorcio Bezerra
  • Lucila B. F. do Prado
  • Ilza Rosa Batista
  • Helena Alessi
  • Manoel Jacobsen Teixeira
  • Gilberto Mastrocola Manzano
  • Gilmar Fernandes do Prado
  • Orlando Graziani Povoas Barsottini
Original Paper
First Online:

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.

Keywords

Machado–Joseph disease Pathophysiology Polysomnography Transcranial sonography Vestibular-evoked myogenic potential SPECT with 99mTc-TRODAT-1 
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Notes

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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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • José Luiz Pedroso
    • 1
    • 2
  • Edson Bor-Seng-Shu
    • 3
  • Pedro Braga-Neto
    • 1
    • 4
  • Rodrigo Souza Ribeiro
    • 1
  • Márcio Luiz Escorcio Bezerra
    • 1
  • Lucila B. F. do Prado
    • 1
  • Ilza Rosa Batista
    • 2
    • 5
  • Helena Alessi
    • 6
  • Manoel Jacobsen Teixeira
    • 3
  • Gilberto Mastrocola Manzano
    • 1
  • Gilmar Fernandes do Prado
    • 1
  • Orlando Graziani Povoas Barsottini
    • 1
    • 2
  1. 1.Department of Neurology, Ataxia UnitUniversidade Federal de São PauloSão PauloBrazil
  2. 2.Hospital Israelita Albert EinsteinSão PauloBrazil
  3. 3.Department of Clinical NeurosurgeryUniversidade de São PauloSão PauloBrazil
  4. 4.Center of Health SciencesUniversidade Estadual do CearáFortalezaBrazil
  5. 5.Department of PsychiatryUniversidade Federal de São PauloSão PauloBrazil
  6. 6.Department of Neurology, Behavior Neurology SectionUniversidade Federal de São PauloSão PauloBrazil

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