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January 1966

Familial Infantile Cerebellar Atrophy Associated With Retinal Degeneration

Author Affiliations

From the Division of Neurology, University of Vermont College of Medicine, Burlington, Vt and the Armed Forces Institute of Pathology, Washington, DC.

Arch Neurol. 1966;14(1):82-94. doi:10.1001/archneur.1966.00470070086010

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.

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