Pathology of olivopontocerebellar atrophy with glutamate dehydrogenase deficiency

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Abstract
The neuropathologic findings in the 1st patient with recognized glutamate dehydrogenase (GDH) deficiency to come to postmortem examination are reported. 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. There was neuronal storage of lipopigment diffusely throughout the CNS and the autonomic neurons, with cell distention, atrophy and loss in selected areas.

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