Yao J K, Dyck P J
J Neurol Sci. 1978 Aug;38(1):59-65. doi: 10.1016/0022-510x(78)90245-9.
Plasma glucosylceramide levels of 5 patients with Hereditary Motor and Sensory Neuropathy Type III (Dejerine-Sottas disease) were approximately 50% higher than in controls. Erythrocyte glucosylceramides, however, were within the range of normal values. Elevated plasma glucosylceramide levels provide further evidence that an abnormality of lipid metabolism may underlie this recessively inherited hypertrophic neuropathy. No abnormality was observed among other glycosphingolipid fractions. An altered sphingomyelin fatty acid composition and reduced phosphatidylcholine level was also found, but this may not be disease-specific.
5例Ⅲ型遗传性运动和感觉神经病（Dejerine-Sottas病）患者的血浆葡萄糖神经酰胺水平比对照组高约50%。然而，红细胞葡萄糖神经酰胺水平在正常范围内。血浆葡萄糖神经酰胺水平升高进一步证明脂质代谢异常可能是这种隐性遗传的肥厚性神经病的基础。在其他糖鞘脂组分中未观察到异常。还发现鞘磷脂脂肪酸组成改变和磷脂酰胆碱水平降低，但这可能并非疾病特异性的。
