N-Acetylaspartylglutamate in CNS Hypomyelination

M.M.C. Wamelink, E. Struys, U. Holwerda, E.A. Sistermans, R.M.L. van Spaendonk, D. Halley, M.A.A.P. Willemsen, C.A.J.M. Jakobs, M.S. van der Knaap, N.I. Wolf

Research output: Contribution to JournalArticleAcademicpeer-review


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. © Georg Thieme Verlag KG Stuttgart New York.
Original languageEnglish
Pages (from-to)74-77
Issue number2
Publication statusPublished - 2011


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