Neurophysiologic study of olivopontocerebellar atrophy with or without glutamate dehydrogenase deficiency

Neurology. 1985 May;35(5):652-9. doi: 10.1212/wnl.35.5.652.

Abstract

By neurophysiologic investigations, we evaluated 20 patients with olivopontocerebellar atrophy (OPCA), comprising 8 with glutamate dehydrogenase (GDH) deficiency and 12 with normal GDH activity. We found sensorimotor, predominantly sensory axonal neuropathy distally in the legs, and peripheral auditory nerve dysfunction (prolonged wave I but normal interpeak latencies in brainstem auditory evoked response) in GDH-deficient patients. These findings seem distinctive enough to serve as the electrophysiologic marker for diagnosis and monitoring of treatment and progression of the disease. The pattern-reversal visual and median nerve somatosensory evoked responses did not differ among the patients and controls.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Aged
  • Brain Stem / physiopathology
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / physiopathology
  • Diagnosis, Differential
  • Electromyography
  • Evoked Potentials, Auditory
  • Evoked Potentials, Somatosensory
  • Evoked Potentials, Visual
  • Female
  • Glutamate Dehydrogenase / deficiency*
  • H-Reflex
  • Humans
  • Male
  • Median Nerve / physiopathology
  • Middle Aged
  • Neural Conduction
  • Olivary Nucleus / physiopathology*
  • Pons / physiopathology*

Substances

  • Glutamate Dehydrogenase