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Neuropediatrics 1990; 21(4): 202-205
DOI: 10.1055/s-2008-1071496
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Decreased Erythrocyte and Platelet Phospholipids and Fatty Acids in Juvenile Neuronal Ceroid-Lipofuscinosis (Batten Disease)

M. J. Bennett1 , J. H. Galloway2 , I. J. Cartwright2 , W. S. Gillis1 , G. P. Hosking1
  • 1Department of Chemical Pathology and the Ryegate Children's Centre, Sheffield Children's Hospital, Sheffield S10 2TH, U.K.
  • 2Departments of Human Metabolism and Haematology, University of Sheffield Medical School, Sheffield S10 2TH, U.K.
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Total cellular and phospholipid fatty acids were analyzed in erythrocytes and platelets from six patients with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt, Batten disease, JNCL). The results were compared to those of age-matched controls. The amounts of total fatty acid and the phospholipid classes, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and phosphatidylserine (PS) were significantly decreased in patients when related to cellular protein. The reductions in total fatty acids were 27 % in erythrocytes and 50 % in platelets. Erythrocyte PC reduction was 36 %, PE was 44 % and PS 27 %. There were no major qualitative differences in the phospholipid fatty acids, suggesting that the fatty acid composition of the reduced phospholipid was normal, and that there is a generalized phospholipid deficiency in these cells in JNCL. This was not related to nutritional status. The pathogenesis of Batten disease may be related to abnormal membrane function resulting from this marked phospholipid deficiency.

Key words

Neuronal ceroid-lipofuscinosis - Batten disease - Fatty acids - Phospholipids - Lipoprotein metabolism