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NEUROLOGY 1976;26:947
© 1976 American Academy of Neurology

Neuropathologic changes in ataxia-telangiectasia

GUILLERMO A. DE LEON, M.D., WARREN D. GROVER, M.D. and DALE S. HUFF, M.D.

From the Division of Neuropathology, and departments of Neurology, Pathology, and Pediatrics, Temple University School of Medicine, and The St. Christopher's Hospital for Children, Philadelphia.

The neuropathologic findings in a 17-year-old boy with ataxia-telangiectasia are described. In agreement with previous reports, pathologic changes were present in the cerebellum, spinal cord, dorsal root ganglia, and striated muscle. The lesions in the spinal cord and dorsal root ganglia were more severe than previously described. Abnormalities were also seen in several brain stem nuclei, including the mesencephalic nucleus of the trigeminus and the substantia nigra. In addition, a small hamartomatous tumor was found in the thalamus.

Requests for reprints should be addressed to Dr. de León, Division of Neuropathology, Temple University Health Sciences Center, 3400 North Broad Street, Philadelphia, PA 19140.

This study was supported in part by Department of Health, Education, and Welfare training grant No. 1-T01-NS10072-0182, NSRA.

Received for publication August 25, 1975.




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