Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

F Mochel; UFH Engelke; J Barritault; B Yang; NH McNeill; JN Thompson; A Vanderver; NI Wolf; MA Willemsen; Frans Verheijen; F Seguin; RA Wevers; R Schiffmann

doi:10.1212/WNL.0b013e3181cbcdc4

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

F Mochel, UFH Engelke, J Barritault, B Yang, NH McNeill, JN Thompson, A Vanderver, NI Wolf, MA Willemsen, Frans Verheijen, F Seguin, RA Wevers, R Schiffmann

Clinical Genetics

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

17 Citations (Scopus)

Abstract

Objective: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro H-1-NMR spectroscopy (H-NMRS). Methods: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. Results: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 mu mol/L, reference <12 mu mol/L). Conclusion: In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders. Neurology (R) 2010; 74: 302-305

Original language	Undefined/Unknown
Pages (from-to)	302-305
Number of pages	4
Journal	Neurology
Volume	74
Issue number	4
DOIs	https://doi.org/10.1212/WNL.0b013e3181cbcdc4
Publication status	Published - 2010

Research programs

EMC MGC-02-96-01

Access to Document

10.1212/WNL.0b013e3181cbcdc4

http://hdl.handle.net/1765/19530

Cite this

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title = "Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases",

abstract = "Objective: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro H-1-NMR spectroscopy (H-NMRS). Methods: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. Results: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 mu mol/L, reference <12 mu mol/L). Conclusion: In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders. Neurology (R) 2010; 74: 302-305",

author = "F Mochel and UFH Engelke and J Barritault and B Yang and NH McNeill and JN Thompson and A Vanderver and NI Wolf and MA Willemsen and Frans Verheijen and F Seguin and RA Wevers and R Schiffmann",

year = "2010",

doi = "10.1212/WNL.0b013e3181cbcdc4",

language = "Undefined/Unknown",

volume = "74",

pages = "302--305",

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TY - JOUR

T1 - Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

AU - Mochel, F

AU - Engelke, UFH

AU - Barritault, J

AU - Yang, B

AU - McNeill, NH

AU - Thompson, JN

AU - Vanderver, A

AU - Wolf, NI

AU - Willemsen, MA

AU - Verheijen, Frans

AU - Seguin, F

AU - Wevers, RA

AU - Schiffmann, R

PY - 2010

Y1 - 2010

N2 - Objective: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro H-1-NMR spectroscopy (H-NMRS). Methods: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. Results: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 mu mol/L, reference <12 mu mol/L). Conclusion: In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders. Neurology (R) 2010; 74: 302-305

AB - Objective: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro H-1-NMR spectroscopy (H-NMRS). Methods: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. Results: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 mu mol/L, reference <12 mu mol/L). Conclusion: In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders. Neurology (R) 2010; 74: 302-305

U2 - 10.1212/WNL.0b013e3181cbcdc4

DO - 10.1212/WNL.0b013e3181cbcdc4

M3 - Article

SN - 0028-3878

VL - 74

SP - 302

EP - 305

JO - Neurology

JF - Neurology

IS - 4

ER -