Modifications of the erythrocyte membrane phospholipids in a family with cerebellar ataxia.
The phospholipid composition and the phospholipid fatty acids of the erythrocyte membrane were determined in a family affected with cerebellar ataxia. 3 adult subjects showed clear clinical signs of the disease, while 3 children were clinically healthy. The phosphatidylserine was diminished, and significant variations were seen in the composition of the fatty acids. The composition of the fatty acids of sphingomyelin was also altered. The same biochemical modifications were seen in patients as well as in their children without clinical signs of the disease.
D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000097:blood / Q000235:genetics*; D002648:Child; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010743:Phospholipids / Q000097:blood*
D005227:Fatty Acids; D010743:Phospholipids