Neuro-otological and neuropathological findings in two cases with Machado-Joseph disease

Acta Otolaryngol Suppl. 1995:520 Pt 1:136-9. doi: 10.3109/00016489509125211.

Abstract

We report chronological changes of neuro-otological findings and associated neuropathological findings in 2 patients. Concerning gaze limitation, upward gaze was primarily disturbed, followed by downward gaze and abduction. Adduction tended to be preserved although convergence was disturbed at the early stage. And, upward gaze limitation was followed by loss of oculocephalic responses (OCRs). Bell's phenomenon was preserved until the late stage of the disease. Caloric nystagmus was absent at the early stage. One patient showed dissociation between nystagmus and vestibulo-collic reflex in the caloric test at the early stage of the disease. Neuropathological examination revealed gliosis in the interstitial nucleus of Cajal and the MLF as well as neuronal loss and gliosis in the oculomotor nuclei. The vestibular nuclei also showed gliosis and atrophy of nerve cells.

Publication types

  • Case Reports

MeSH terms

  • Brain Stem / pathology
  • Caloric Tests*
  • Cerebellum / pathology
  • Female
  • Gait / physiology
  • Humans
  • Machado-Joseph Disease / diagnosis*
  • Machado-Joseph Disease / pathology
  • Machado-Joseph Disease / physiopathology
  • Male
  • Middle Aged
  • Neck Muscles / innervation
  • Neurologic Examination
  • Oculomotor Nerve / pathology
  • Oculomotor Nerve / physiopathology
  • Ophthalmoplegia / diagnosis*
  • Ophthalmoplegia / pathology
  • Ophthalmoplegia / physiopathology
  • Reflex, Vestibulo-Ocular / physiology*
  • Spinal Cord / pathology
  • Vestibular Nerve / pathology
  • Vestibular Nerve / physiopathology
  • Vestibular Nuclei / pathology
  • Vestibular Nuclei / physiopathology