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.
D000293:Adolescent; D000328:Adult; D000818:Animals; D005227:Fatty Acids / Q000032:analysis; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000378:metabolism*; D006801:Humans; D050356:Lipid Metabolism; D010743:Phospholipids / Q000378:metabolism; D051381:Rats; D012016:Reference Values; D012584:Sciatic Nerve / Q000378:metabolism*; D013127:Spinal Nerves / Q000378:metabolism*; D013497:Sural Nerve / Q000378:metabolism*
D005227:Fatty Acids; D010743:Phospholipids