Neuropediatrics 2011; 42(2): 74-77
DOI: 10.1055/s-0031-1277176
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

N-Acetylaspartylglutamate in CNS Hypomyelination

M. M. C. Wamelink1 , E. Struys1 , U. Holwerda1 , E. A. Sistermans2 , R. M. L. van Spaendonk2 , D. Halley3 , M. A. A. P. Willemsen4 , C. Jakobs1 , M. S. van der Knaap5 , N. I. Wolf5
  • 1Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
  • 2Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
  • 3Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
  • 4Department of Child Neurology, Radboud University Medical Center, Nijmegen, The Netherlands
  • 5Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Further Information

Publication History

received 10.03.2011

accepted 12.04.2011

Publication Date:
03 May 2011 (online)

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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.

References

Correspondence

Nicole I. Wolf

Department of Child Neurology

VU University Medical Center

Postbox 7057

1007 MB Amsterdam

The Netherlands

Email: n.wolf@vumc.nl