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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases.

We used a high-performance liquid chromatography method to measure CSF gangliosides, neutral glycolipids, and sulfatides in patients with lysosomal storage disorders. These measurements could be done on less than 1 milliliter of CSF. In patients with GM1 gangliosidosis, GM1 ganglioside was increased, and in GM2 gangliosidosis patients, GM2 ganglioside was increased in CSF. Sulfatides were variably increased in CSF early in the course of the disease and appeared to be a means of monitoring patients, following bone marrow transplantation. Fabry's disease patients showed an increase in globotriaosylceramide, but Krabbe's disease patients did not demonstrate an increase in galactosylceramide. This study suggests that CSF glycosphingolipid measurements may prove helpful in the diagnosis and monitoring of lysosomal storage diseases.[1]

References

  1. Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases. Kaye, E.M., Ullman, M.D., Kolodny, E.H., Krivit, W., Rischert, J.C. Neurology (1992) [Pubmed]
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