N-Acetylaspartylglutamate in CNS Hypomyelination

MMC Wamelink; E Struys; U Holwerda; EA Sistermans; RML (Rosalina) van Spaendonk; Dicky Halley; MAAP Willemsen; C Jakobs; MS van der Knaap; NI Wolf

doi:10.1055/s-0031-1277176

N-Acetylaspartylglutamate in CNS Hypomyelination

MMC Wamelink
, E Struys
, U Holwerda
, EA Sistermans
, RML (Rosalina) van Spaendonk
, Dicky Halley
, MAAP Willemsen
, C Jakobs
, MS van der Knaap
, NI Wolf

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	Undefined/Unknown
Pages (from-to)	74-77
Number of pages	4
Journal	Neuropediatrics
Volume	42
Issue number	2
DOIs	https://doi.org/10.1055/s-0031-1277176
Publication status	Published - 2011

Research programs

EMC MGC-02-96-01

Access to Document

10.1055/s-0031-1277176

http://hdl.handle.net/1765/26551

Cite this

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title = "N-Acetylaspartylglutamate in CNS Hypomyelination",

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.",

author = "MMC Wamelink and E Struys and U Holwerda and EA Sistermans and \{van Spaendonk\}, \{RML (Rosalina)\} and Dicky Halley and MAAP Willemsen and C Jakobs and \{van der Knaap\}, MS and NI Wolf",

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doi = "10.1055/s-0031-1277176",

language = "Undefined/Unknown",

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T1 - N-Acetylaspartylglutamate in CNS Hypomyelination

AU - Wamelink, MMC

AU - Struys, E

AU - Holwerda, U

AU - Sistermans, EA

AU - van Spaendonk, RML (Rosalina)

AU - Halley, Dicky

AU - Willemsen, MAAP

AU - Jakobs, C

AU - van der Knaap, MS

AU - Wolf, NI

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

U2 - 10.1055/s-0031-1277176

DO - 10.1055/s-0031-1277176

M3 - Article

SN - 0174-304X

VL - 42

SP - 74

EP - 77

JO - Neuropediatrics

JF - Neuropediatrics

IS - 2

ER -