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.

, ,
doi.org/10.1055/s-0031-1277176, hdl.handle.net/1765/26551
Neuropediatrics
Erasmus MC: University Medical Center Rotterdam

Wamelink, M., Struys, E., Holwerda, U., Sistermans, E. A., van Spaendonk, R., Halley, D., … Wolf, N. (2011). N -acetylaspartylglutamate in CNS hypomyelination. Neuropediatrics, 42(2), 74–77. doi:10.1055/s-0031-1277176