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

Neurology

Volumn 74, Issue 4, 2010, Pages 302-305

  Mochel, F ^a,b   Engelke, U F H ^c   Barritault, J ^e   Yang, B ^b   McNeill, N H ^b   Thompson, J N ^f   Vanderver, A ^g   Wolf, N I ^h   Willemsen, M A ^d   Verheijen, F W ⁱ   Seguin, F ^e   Wevers, R A ^c   Schiffmann, R ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b BAYLOR RESEARCH INSTITUTE   (United States)

^c Laboratory of Pediatrics and Neurology   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITÉ DE POITIERS   (France)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g CHILDREN S RESEARCH INSTITUTE   (United States)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLASPARTYLGLUTAMIC ACID; SIALIC ACID;

ADULT; ARTICLE; BODY FLUID; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; LEUKODYSTROPHY; MUTATOR GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; SIALIC ACID STORAGE DISEASE; SLC17A5 GENE; URINALYSIS;

EID: 76749147039     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cbcdc4     Document Type: Article

References (10)

1. Verheijen FW, Verbeek E, Aula N, et al. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 1999;23:462-465.
2. Mochel F, Yang B, Barritault J, et al. Free sialic acid storage disease without sialuria. Ann Neurol 2009;65:753-757.
3. Wolf NI, Willemsen MA, Engelke UF, et al. Severe hypo-myelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology 2004;62: 1503-1508.
4. Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E. N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease. Adv Exp Med Biol 2006; 576:353-359.
5. Sartori S, Burlina AB, Salviati L, et al. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. Eur J Paediatr Neurol 2008;12: 348-350.
6. Burlina AP, Ferrari V, Divry P, et al. N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr 1999; 158:406-409.
7. Mochel F, Sedel F, Vanderver A, et al. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain 2009;132:801-809.
8. Passani L, Elkabes S, Coyle JT. Evidence for the presence of N-acetylaspartylglutamate in cultured oligodendrocytes and LPS activated microglia. Brain Res 1998;794:143-145.
9. Kolodziejczyk K, Hamilton NB, Wade A, Karadottir R, Attwell D. The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes. Brain 2009;132:1496-1508.
10. van der Post JP, de Visser SJ, de Kam ML, et al. The central nervous system effects, pharmacokinetics and safety of the NAALADase-inhibitor GPI 5693. Br J Clin Pharmacol 2005;60:128-136.