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A Neuromuscular Disorder Resembling Friedreich's Ataxia, Associated with Steatorrhea, Acanthocytosis, Retinitis Pigmentosa, and a Disorder of Lipid Metabolism

JAMES F. SCHWARTZ, M.D.; LEWIS P. ROWLAND, M.D.; HOWARD EDER, M.D.; PAUL A. MARKS, M.D.; ELLIOT F. OSSERMAN, M.D.; ERICH HIRSCHBERG, Ph.D.; HELEN ANDERSON, M.D.

Arch Neurol. 1963;8(4):438-454.

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

Introduction

The hereditary ataxias have been extensively studied clinically and pathologically, but the fundamental nature of these diseases is not known. One of the most significant features of the syndrome to be described is that it is the first of the hereditary ataxias in which there is a clue to the metabolic defect.

In 1950, Bassen and Kornzweig¹ defined a new syndrome when they reported the presence of unusual, thorny-appearing erythrocytes in an 18-year-old girl who had a neuromuscular disorder resembling Friedreich's ataxia and retinitis pigmentosa. In 1957, they subsequently described the same triad of abnormalities in the brother of this girl.² In 1952, Singer, Fisher, and Perlstein³ reported a similar case and called the abnormal erythrocytes "acanthrocytes." ("Acanthos" is the Greek word for thorn; subsequent workers have preferred "acanthocyte" as etymologically more correct,^4-6 and this term will be used in this paper.) The latter patient . . . [Full Text PDF of this Article]

Author Affiliations
NEW YORK

From the Neurological Clinical Research Center, Columbia-Presbyterian Medical Center, the Departments of Neurology and Medicine, College of Physicians and Surgeons, Columbia University, and the Department of Medicine, Albert Einstein College of Medicine.

Footnotes
Submitted for publication Oct. 5, 1962.

Special Fellow (BT-600), NINDB, USPHS (Dr. Schwartz).

Supported by Grant B-3359, USPHS.

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