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
