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

Lipid abnormalities in hereditary neuropathy. Part 3. Plasma and erythrocyte lipids of HMSN-III (Dejerine-Sottas disease).

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.[1]


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