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H. H. WHITE, MD; L. P. ROWLAND, MD; S. ARAKI, MD; H. L. THOMPSON, PhD; D. COWEN, MD

Arch Neurol. 1965;13(5):455-470.

	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 NOVEMBER, 1962, a family with an unusual neurological disorder was encountered. When the urinary excretion of amino acids was studied in January 1963, a unique pattern was seen and we thought we were dealing with a new syndrome. It soon became apparent that the same disorder had been described by Carson and Neill,⁵ and Gerritsen et al¹¹ during the preceding months. These authors, together with Cusworth, Dent, Field and Westall^3,7 had identified the abnormal compound as homocystine. Since then about 20 cases have been discovered^{1,3,7,12,16,18,23} and the biochemical abnormality has been identified as a deficiency of cystathionine synthetase.²³

The family to be described here illustrates the typical features of the disease. Biochemical and neuropathological studies were carried out in two of three affected individuals (cases 2 and 3), and some neuropathological data were available in the third (case 1). . . . [Full Text PDF of this Article]

Author Affiliations
KANSAS CITY, KAN; NEW YORK; EL PASO, TEXAS; NEW YORK

From the Neurology Service, William Beaumont General Hospital, El Paso, Tex; the departments of neurology and pathology (division of neuropathology) Columbia University; and the Neurological Clinical Research Center, Neurological Institute, Columbia-Presbyterian Medical Center, New York. Formerly Captain (MC) US Army, presently assistant professor of Medicine (neurology) University of Kansas (Dr. White); associate professor of neurology, Columbia University, (Dr. Rowland); formerly Fellow, National Multiple Sclerosis Society at Columbia University, presently associate professor of neurology, Kyushu University, Japan (Dr. Araki); Lt Col US Army (Dr. Thompson); professor of neuropathology, Columbia University (Dr. Cowen).

Footnotes
Submitted for publication May 25, 1965; accepted July 6.

Read in part before the 89th Annual Meeting of the American Neurological Association, June 1964.

Reprint requests to 710 W 168th St, New York, NY 10032 (Dr. Rowland).

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