CSF N-acetylaspartylglutamate (NAAG) has been found to be elevated in some hypomyelinating disorders. This study addressed the question whether it could be used as a marker for hypomyelination and as a means to distinguish between hypomyelinating disorders biochemically. We have measured CSF NAAG in a cohort of 28 patients with hypomyelination with known and unknown aetiology. NAAG was found to be elevated in 7 patients, but was normal in the majority, including patients with defined hypomyelinating disorders. CSF NAAG is not a universal marker of hypomyelination, and the mechanism of its elevation remains poorly understood.

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Keywords N -acetylaspartylglutamate, hypomyelination, white matter disorder
Persistent URL dx.doi.org/10.1055/s-0031-1277176, hdl.handle.net/1765/26551
Wamelink, M.M.C, Struys, E, Holwerda, U, Sistermans, E.A, van Spaendonk, R.M.L, Halley, D.J.J, … Wolf, N.I. (2011). N -acetylaspartylglutamate in CNS hypomyelination. Neuropediatrics, 42(2), 74–77. doi:10.1055/s-0031-1277176