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

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