1c:I[419806,["/_next/static/chunks/bb923814e1f4d2e9.js","/_next/static/chunks/dd3ee9f5b7716ca6.js","/_next/static/chunks/4204a0ae82542ca8.js","/_next/static/chunks/1270dead247da766.js","/_next/static/chunks/6e1aa89a642f40be.js","/_next/static/chunks/2d7aa753e81324a8.js","/_next/static/chunks/8ffd0b71567920d8.js","/_next/static/chunks/67ea6dfd21f16c5f.js","/_next/static/chunks/24eb4379f68013fd.js","/_next/static/chunks/b8cd775ffdf935bd.js","/_next/static/chunks/983103cd9eb7b428.js","/_next/static/chunks/263f2cdcb9aa2341.js","/_next/static/chunks/294b9525248c8e5f.js"],"default"] 1d:T441,

Introduction

The predominant ocular findings reported in the familial and heredodegenerative ataxias are nystagmus, optic atrophy, and ocular muscle palsies. Nystagmus is said to be characteristic of the so-called spinal form of familial ataxia (Friedreich's ataxia) and optic atrophy and ocular muscle palsies of the spinocerebellar (Marie's ataxia) and cerebellar forms of heredodegenerative ataxia.¹We are concerned in this paper with some aspects of the ocular findings in the heredodegenerative ataxias which fit broadly within the classification of the spinocerebellar and cerebellar forms of the disease. In the literature we found a group of heredodegenerative ataxias associated with progressive ophthalmoplegia, a group associated with retinal degeneration, and a group associated with both ophthalmoplegia and retinal degeneration. Stephans et al.²in 1958 reported 4 cases of heredodegenerative ataxia associated with progressive ophthalmoplegia in which the ophthalmoplegia was characterized by an impairment of upward gaze with a preservation of1e:T407,Over 70 years ago Menzel¹presented 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.^2-27In 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,^11-13a 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 been1f:T40c,THE HEREDITARY ATROPHIES of the spinocerebellar systems do not yield easily to classification. Distinctions made on the basis of their morbid anatomy are derived essentially from the distribution of changes among various tracts, cell types, and nuclei, since the types of histologic change involved—loss of neurons, axons, and myelin, together with the reaction of astrocytes—are rather uniform and poorly specific. Various clinicopathologic entities have been created, but attempts to maintain them have been plagued by the appearance of abortive and transitional forms. The purpose of this paper is to report a kindred (Fig 1) with hereditary ataxia in which there is a striking difference clinically and pathologically between the father and his afflicted three children (Table). The clinical and pathologic syndrome of familial infantile cerebellar cortical atrophy of subacute course and associated with retinal degeneration, as exemplified in the three children, has not been previously reported.

Report of Cases

CASE

	Year	Citations

References