Neurophysiologic study of olivopontocerebellar atrophy with or without glutamate dehydrogenase deficiency.
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.
D000368:Aged; D001933:Brain Stem / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004576:Electromyography; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D005074:Evoked Potentials, Visual; D005260:Female; D005969:Glutamate Dehydrogenase / Q000172:deficiency*; D006181:H-Reflex; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D008875:Middle Aged; D009431:Neural Conduction; D009847:Olivary Nucleus / Q000503:physiopathology*; D011149:Pons / Q000503:physiopathology*
D005969:Glutamate Dehydrogenase