Reduced chain length in myelin sphingolipids and poorer motor coordination in mice deficient in the fatty acid elongase .

Very-long-chain fatty acids, with a chain length of >C20, are abundant in myelin sphingolipids. Recently, a de novo mutation in the gene, which encodes fatty acid elongase, was identified in patients with neurocutaneous disorders involving skin ichthyosis and multiple neurological abnormalities, including hypomyelination, spastic paraplegia, and high-frequency deafness. However, the consequences of deficiency for lipid composition and detailed pathological changes in the brain remain unclear.