Pathology of olivopontocerebellar atrophy with glutamate dehydrogenase deficiency.

Abstract

We report the neuropathologic findings in the first patient with recognized glutamate dehydrogenase (GDH) deficiency to come to postmortem examination. He had progressive cerebellar ataxia beginning at age 21. He died at age 47 of pulmonary emboli. Postmortem examination revealed pancerebellar, olivary, and mild pontine atrophy, demyelination of the posterior columns, degeneration of anterior horn and dorsal root ganglion cells, and reduction of myelinated fibers in the sural nerve. In addition, there was neuronal storage of lipopigment diffusely throughout the CNS and the autonomic neurons, with cell distention, atrophy, and loss in selected areas.

• Authors: S Chokroverty, R Khedekar, B Derby, R Sachdeo, C Yook, F Lepore, W Nicklas, R C Duvoisin
• Journal: Neurology (Neurology) Vol. 34 Issue 11 Pg. 1451-5 (Nov 1984) ISSN: 0028-3878 [Print] United States
• PMID: 6493492 (Publication Type: Case Reports, Journal Article)

Chemical References

• Lipofuscin
• Glutamate Dehydrogenase

Topics

• Atrophy
• Brain Diseases (complications, metabolism, pathology)
• Cerebellar Diseases (complications, metabolism, pathology)
• Glutamate Dehydrogenase (deficiency)
• Humans
• Lipofuscin (metabolism)
• Male
• Middle Aged
• Olivary Nucleus (pathology)
• Pons (pathology)
• Spinal Cord (pathology)