3. N-acetyl-aspartyl-glutamate is elevated in the CSF of

3. N-acetyl-aspartyl-glutamate is elevated
in the CSF of SASD patients
Fanny Mochel, Udo F.H. Engelke, J. Barritault, Bingzhi Yang, Nathan H. McNeill, Jerry N.
Thompson, Adeline Vanderver, Nicole Wolf, Michel A. Willemsen, Frans W. Verheijen, François
Seguin, Ronald A. Wevers, Raphael Schiffmann
Neurology, 2010

SASD: Elévation de NAAG dans le LCR

Corrélation Clinico-Biologique?

4. Early energy deficit in Huntington disease:
Identification of a plasma biomarker traceable
during disease progression
Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Laurence
Perin, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold,
Daniel Rabier, Alexandra Durr
PLoS ONE 2007

Maladie de Huntington
- Maladie à expansion de polyglutamines
- Prévalence 1/5000-1/10000
- Autosomique dominant, 100% pénétrance
- Diagnostic présymptomatique
- 30-50ans: dépression, chorée, démence
- Perte de poids précoce…