Serial Biochemistry of Serum and Cerebrospinal Fluid in Amaurotic Family Idiocy (Tay-Sachs Disease).

Abstract

Serial biochemical serum and cerebrospinal fluid studies in 7 cases of Tay-Sachs disease disclosed some statistically significant variation from normal values. Two additional control cases of dissimilar degenerative neurologic illnesses of childhood were included as controls. In Tay-Sachs disease, an elevation in serum alpha-2 globulin was found. Decreased values for serum total protein and albumin, together with markedly depressed gamma globulin were seen. Other globulin fractions were normal. Within spinal fluid there was decreased alpha and gamma globulin and gamma globulin/total protein ratio values. Serum neuraminic acid was consistently elevated. Decreases in serum total neutral and phospho-lipids were recorded in Tay-Sachs disease. A decrease was also observed in serum free cholesterol values. Results in Tay-Sachs disease differed from the 2 control cases of degenerative central nervous system disease most markedly with respect to lowered alpha and gamma globulin content of spinal fluid and with regard to decreased serum total lipids and phospholipids.