Biochemical studies in Nevin-Jones syndrome.
The lipid profiles of the brain in four cases of Nevin-Jones syndrome are described. A loss of phosphatidyl ethanolamine was found in both white matter and cortex in two cases as well as a more general loss of lipids in the cortex in one patient; there was a normal cerebrosidesulphatide ratio in myelin. These findings indicate a general loss of myelin over a period of time. The distribution of fatty acids in cerebrosides and sulphatides show a slight reduction in nervonic acid (24:1). The findings support the view that a secondary demyelination is present.
D001927:Brain Diseases / Q000378:metabolism*; D002498:Centrifugation; D002540:Cerebral Cortex / Q000378:metabolism; D002554:Cerebrosides / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D003711:Demyelinating Diseases / Q000209:etiology; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006595:Hexosamines / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D008875:Middle Aged; D009207:Myoclonus; D009438:Neuraminic Acids / Q000378:metabolism; D010714:Phosphatidylethanolamines / Q000378:metabolism; D010743:Phospholipids / Q000378:metabolism
D002554:Cerebrosides; D005227:Fatty Acids; D006595:Hexosamines; D009438:Neuraminic Acids; D010714:Phosphatidylethanolamines; D010743:Phospholipids; D002784:Cholesterol