Hereditary Olivopontocerebellar Atrophy With Retinal Degeneration

Abstract

Over 70 years ago Menzel¹ presented the anatomic findings of olivopontocerebellar atrophy in a 46-year-old man. Since then, 26 reports have appeared in the world's literature describing pathologically verified examples of this disease.^2-27 In all, the clinical features were similar, with ataxia, incoordination of the hands, and rest tremors predominating. In only two reports has there been association of olivopontocerebellar atrophy and blindness,^11-13 a feature characterizing the family described here. About 18 years ago a Negro man, case IV-1 of this report, was admitted to the Baltimore City Hospitals because of visual difficulty and unsteady gait. Clinical examination suggested a diagnosis of olivopontocerebellar atrophy in combination with pigmentary retinal disease. To date, 27 members of the kindred over five generations have been afflicted with similar progressive ataxia and blindness. In addition to the two attended in hospital, 12 other affected members of the family have been