The Cerebellum

, Volume 13, Issue 4, pp 447–451

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

Authors

    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
    • Hospital Israelita Albert Einstein
  • Edson Bor-Seng-Shu
    • Department of Clinical NeurosurgeryUniversidade de São Paulo
  • Pedro Braga-Neto
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
    • Center of Health SciencesUniversidade Estadual do Ceará
  • Rodrigo Souza Ribeiro
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
  • Márcio Luiz Escorcio Bezerra
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
  • Lucila B. F. do Prado
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
  • Ilza Rosa Batista
    • Hospital Israelita Albert Einstein
    • Department of PsychiatryUniversidade Federal de São Paulo
  • Helena Alessi
    • Department of Neurology, Behavior Neurology SectionUniversidade Federal de São Paulo
  • Manoel Jacobsen Teixeira
    • Department of Clinical NeurosurgeryUniversidade de São Paulo
  • Gilberto Mastrocola Manzano
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
  • Gilmar Fernandes do Prado
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
  • Orlando Graziani Povoas Barsottini
    • Department of Neurology, Ataxia UnitUniversidade Federal de São Paulo
    • Hospital Israelita Albert Einstein
Original Paper

DOI: 10.1007/s12311-014-0553-8

Cite this article as:
Pedroso, J.L., Bor-Seng-Shu, E., Braga-Neto, P. et al. Cerebellum (2014) 13: 447. doi:10.1007/s12311-014-0553-8

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 diseasePathophysiologyPolysomnographyTranscranial sonographyVestibular-evoked myogenic potentialSPECT with 99mTc-TRODAT-1

Copyright information

© Springer Science+Business Media New York 2014