Suzuki K, Chen G C
The Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, New York 10461, USA.
J Lipid Res. 1967 Mar;8(2):105-13.
The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis). Gray matter of patients with each disease showed a characteristic abnormal ceramide hexoside pattern. In Tay-Sachs gray matter, ceramide trihexoside is the major component, whereas ceramide tetrahexoside is barely detectable. In GM1-gangliosidosis, ceramide tetrahexoside is the major ceramide hexoside, while ceramide trihexoside is present only in small amount. These two major components have been characterized as the asialo derivatives of, respectively, the "Tay-Sachs ganglioside" (GM2-ganglioside) and the normal major monosialoganglioside (GM1-ganglioside). In both diseases, more than half the ceramide monohexoside of gray matter was glucocerebroside. Gray matter ceramide dihexoside, present in both diseases at higher than normal levels, was mostly ceramide lactoside, with possibly a small amount of ceramide digalactoside. Sulfatide contained only galactose. The abnormal ceramide hexoside pattern is limited to gray matter: white matter showed normal ceramide hexosides, i.e. a preponderance of monohexosides and sulfatide, with no detectable glucocerebroside.
对从患有泰-萨克斯病和全身性神经节苷脂沉积症（以下称为GM1-神经节苷脂沉积症）患者大脑中分离出的神经酰胺己糖苷的碳水化合物组成进行了测定。每种疾病患者的灰质都呈现出一种特征性的异常神经酰胺己糖苷模式。在泰-萨克斯病患者的灰质中，神经酰胺三己糖苷是主要成分，而神经酰胺四己糖苷几乎检测不到。在GM1-神经节苷脂沉积症中，神经酰胺四己糖苷是主要的神经酰胺己糖苷，而神经酰胺三己糖苷仅少量存在。这两种主要成分已分别被鉴定为“泰-萨克斯神经节苷脂”（GM2-神经节苷脂）和正常主要单唾液酸神经节苷脂（GM1-神经节苷脂）的去唾液酸衍生物。在这两种疾病中，灰质中超过一半的神经酰胺单己糖苷是葡萄糖脑苷脂。两种疾病中灰质神经酰胺二己糖苷的含量均高于正常水平，主要是神经酰胺乳糖苷，可能还有少量神经酰胺二半乳糖苷。硫脂仅含半乳糖。异常的神经酰胺己糖苷模式仅限于灰质：白质呈现正常的神经酰胺己糖苷，即单己糖苷和硫脂占优势，且检测不到葡萄糖脑苷脂。
