Lipid abnormalities in hereditary neuropathy. Part 4. Endoneurial and liver lipids of HMSN-III (Déjerine-Sottas disease).

Detailed lipid analyses of 1 liver and 4 endoneurial samples obtained from patients with hereditary motor and sensory neuropathy, type III (Déjerine-Sottas disease) were compared with controls. In parallel with the severe decrease in myelin, there was a substantial alteration of lipid composition including: (1) a decrease in endoneurial content of free cholesterol, glycosphingolipid and phospholipid; (2) a selective reduction of endoneurial phosphatidylserine; (3) a high proportion of 18:0 in endoneurial triacylglycerol and phospholipids; and (4) a striking diminution of long chain fatty acids (C22 - C27) in sphingolipids. No abnormal profile of liver glycosphingolipids was found. Contrary to what we reported previously, these studies do not confirm a systemic glycosphingolipid abnormality in this disorder.