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Aly Fahmy, MD, PhD; Theresa Carter, MSSW; George Paulson, MD; Walter E. Nance, MD, PhD

Arch Neurol. 1969;20(5):468-478.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

IN THIS report we will describe a brother and sister who were both affected with a slowly progressive neurologic disease that had its onset in early childhood. Nine other siblings are clinically normal; but the parents are consanguineous, suggesting that the disease is genetically determined and transmitted as an autosomal recessive trait. Although the clinical findings in the present cases resemble those of several recognized hereditary neurologic diseases, we believe the mode of inheritance and the distinctive electron microscopic findings on sural nerve biopsies may represent a new genetic entity.¹

Report of Cases

CASE 1.—A female of English extraction was born on Dec 12, 1942 (Fig 1, a). The pregnancy and home delivery were uneventful, and her early growth was thought to be normal. She did not walk until the age of 2, however, and her gait was never normal, being described as "stiff-legged." Although she began to talk . . . [Full Text PDF of this Article]

Author Affiliations
Nashville, Tenn; Columbus, Ohio; Nashville, Tenn

From the departments of pathology (Dr. Fahmy) and medicine (Dr. Nance and Mrs. Carter), Vanderbilt University School of Medicine, the Laboratory Service and Electron Microscopy Laboratory, Veterans Administration Hospital, and the Department of Pathology, Meharry Medical College (Dr. Fahmy), Nashville, Tenn; and the Department of Neurology, the Ohio State University School of Medicine, Columbus, Ohio (Dr. Paulson). Dr. Nance is a Markle Scholar in Academic Medicine.

Footnotes
Submitted for publication Sept 3, 1968; accepted Nov 21.

Presented in part at the 57th annual meeting of the International Academy of Pathology, Chicago, March 4, 1968.

Reprint requests to Veterans Administration Hospital, 1310 24th Ave S, Nashville, Tenn 37203 (Dr. Fahmy.)

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