Yao J K, Dyck P J
J Neurol Sci. 1981 Nov-Dec;52(2-3):179-90. doi: 10.1016/0022-510x(81)90003-4.
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.
对从III型遗传性运动和感觉神经病（德热里纳 - 索塔斯病）患者获取的1份肝脏样本和4份神经内膜样本进行了详细的脂质分析，并与对照组进行了比较。与髓鞘的严重减少同时出现的是，脂质组成发生了显著改变，包括：（1）神经内膜中游离胆固醇、糖鞘脂和磷脂含量降低；（2）神经内膜中磷脂酰丝氨酸选择性减少；（3）神经内膜三酰甘油和磷脂中18:0比例较高；（4）鞘脂中长链脂肪酸（C22 - C27）显著减少。未发现肝脏糖鞘脂有异常特征。与我们之前报道的情况相反，这些研究并未证实在该疾病中存在系统性糖鞘脂异常。
