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April 1967

Hereditary Olivopontocerebellar Atrophy With Retinal Degeneration: Report of a Family Through Six Generations

Author Affiliations

From the Division of Neurological Medicine Department of Pathology and Division of Otolaryngology, The Johns Hopkins and Baltimore City hospitals, Baltimore. Dr. Weiner is now a captain in the US Medical Corps, Womack Army Hospital, Fort Bragg, NC. Dr. Stoll is now chief of Neurological Surgery, Rhode Island Hospital, Providence.

Arch Neurol. 1967;16(4):364-376. doi:10.1001/archneur.1967.00470220028004

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

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