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Familial Infantile Cerebellar Atrophy Associated With Retinal Degeneration
CAPT STIRLING CARPENTER;
GEORGE A. SCHUMACHER, MD
Arch Neurol. 1966;14(1):82-94.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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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
. . . [Full Text PDF of this Article]
Author Affiliations
BURLINGTON, VT
From the Division of Neurology, University of Vermont College of Medicine, Burlington, Vt and the Armed Forces Institute of Pathology, Washington, DC.
Footnotes
Submitted for publication April 9, 1965; accepted Oct 11.
Reprint requests to Mary Fletcher Hospital, Burlington, Vt 05401 (Dr. Schumacher).
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