Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases

Fanny Mochel (1) , Nadège Boildieu (2) , Julie Barritault (2) , Catherine Sarret (3, 4) , Eléonore Eymard-Pierre (3, 4) , François Seguin (2) , Raphael Schiffmann (5) , Odile Boespflug-Tanguy (3)

1 CHU Pitié-Salpêtrière [AP-HP]
2 CHU de Poitiers [La Milétrie] - Centre hospitalier universitaire de Poitiers = Poitiers University Hospital
3 GReD - Génétique, Reproduction et Développement
4 Department of Genetics and Cytogenetics
5 Baylor Research Institute

In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern.

Mots clés: NMR spectroscopy; N-acetylaspartylglutamate; biomarker; leukodystrophy; Pelizaeus-Merzbacher disease

Fanny Mochel, Nadège Boildieu, Julie Barritault, Catherine Sarret, Eléonore Eymard-Pierre, et al.. Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2010, 1802 (11), pp.1112. ⟨10.1016/j.bbadis.2010.07.005⟩. ⟨hal-00623293⟩