Bassen-Kornzweig Syndrome: Deficiency of Serum β-Lipoprotein
- 1 April 1963
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 8 (4), 438-454
- https://doi.org/10.1001/archneur.1963.00460040108010
Abstract
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 patientThis publication has 1 reference indexed in Scilit:
- Tangier DiseaseAnnals of Internal Medicine, 1961