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February 1968

Acanthocytosis Without

Author Affiliations

Lexington, Ky
From Department of Neurology, University of Kentucky Medical Center, Lexington.

Arch Neurol. 1968;18(2):134-140. doi:10.1001/archneur.1968.00470320036004

IN THE Bassen-Kornzweig syndrome,1-6 thorny malformation of the erythrocytes (acanthocytes), a disease which begins in childhood, is associated with progressive ataxia; atypical retinitis pigmentosa; muscle wasting; steatorrhea, which may appear only in early life; and biochemical abnormalities. The serum levels for cholesterol, carotenoids, vitamin A, and phospholipids are invariably depressed, and the β-lipoprotein moiety is absent. This syndrome appears to be the expression of an autosomal recessive gene.

The family described in this paper is not the first in which acanthocytosis in an adult has been reported in conjunction with neurological disease, but the neurological manifestations are dissimilar to those of the Bassen-Kornzweig syndrome, and the biochemical abnormalities of that syndrome are not present. Kuo and Bassett in 19627 reported steatorrhea, acanthocytosis, and neuropathy in a man aged 41, but the nature of the neuropathy was not commented upon. Kahan et al, 1963,8,9 found "acquired" acanthocytosis

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