N-acetylaspartylglutamate in CNS hypomyelination
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Authors
Wamelink, M.M.
Struys, E.
Holwerda, U.
Sistermans, E.A. Erik
Spaendonk, R.M.L. van
Halley, D.
Willemsen, M.A.A.P. Michel
Jakobs, C.
Knaap, M.S. van der
Wolf, N.I.
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Abstract
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.