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)

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.

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Correspondence

Nicole I. Wolf

Department of Child Neurology

VU University Medical Center

Postbox 7057

1007 MB Amsterdam

The Netherlands

Email: n.wolf@vumc.nl

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