Olivopontocerebellar Degeneration: Clinical and Ultrastructural Abnormalities

Thirty-three persons in the Schut-Swier kindred at risk for autosomal dominant olivopontocerebellar degeneration have been examined and nine new cases identified. These affected individuals manifested severe cerebellar deficits; abnormalities of cortical, bulbar, and spinal motor neurons; and posterior column dysfunction. Cerebellar biopsy material from two patients revealed extensive progressing loss of Purkinje cells, degeneration of cortical afferents, and variable loss of granule cells. Vermiform tubules that resemble paramyxovirus nucleocapsids were found in association with crystalline inclusions in both biopsy specimens.