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Hereditary Neurological Disease With Acanthocytosis:  A New Syndrome

Irving M. Levine, MD; J. Worth Estes, MD; Joseph M. Looney, MD
Arch Neurol. 1968;19(4):403-409. doi:10.1001/archneur.1968.00480040069007.
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ACANTHOCYTOSIS has been characterized as a genetic disorder manifested by the appearance of spiny red cells in the peripheral blood smear, abnormal lipid metabolism usually involving absent β-lipoproteins, steatorrhea, retinitis pigmentosa, and alterations of the central and peripheral nervous systems including atrophy of certain muscle groups.1 In 1966 a complete review of this disorder was published by Farquhar and Ways.2

In 1960 Levine et al3 gave a preliminary report of the patient and family presented in this paper. The earlier report indicated that in 13 of 28 maternal relatives there were acanthocytes in the peripheral blood while 15 had none. At that time, 8 of 17 persons available for neurological examinations showed signs of neurological disease. Studies of the red blood cells (RBC) and serumlipids in the family were presented in a subsequent report (Estes et al).4 A unique feature of the syndrome in this

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