SEARCH

SEARCH BY CITATION

Keywords:

  • Niemann-Pick type C1 disease;
  • NPC1;
  • MRS;
  • neurodegeneration;
  • taurine;
  • myo-inositol

Abstract

Purpose:

To evaluate brain metabolite levels as in vivo indicators of disease progression in a widely studied mouse model of Niemann-Pick type C1 (NPC1) disease with quantitative 1H magnetic resonance spectroscopy (MRS).

Materials and Methods:

Single voxel MRS experiments were carried out in vivo in a mouse model of NPC1 disease and in control mice in two brain regions (central and posterior) at two timepoints (presymptomatic and endstage) to examine changes in metabolite levels in NPC1 disease. Concentrations of nine metabolites were quantified by fitting a simulated basis set of metabolite signals to the acquired spectra.

Results:

The only differences found in brain metabolite levels between NPC1 disease model and control mice were increased myo-inositol and decreased taurine in the posterior region of the brain at the endstage of the disease. Metabolite changes reported in past clinical MRS studies of NPC disease were not found in the current study of the mouse model.

Conclusions:

The 1H spectra obtained from NPC1 mice and control mice were very similar, even at endstages of the disease. Although differences in two metabolites associated with neurodegenerative diseases were found and could inform future studies of the disease model, it appears that MRS in this mouse model of NPC1 disease does not have the sensitivity desired for a biomarker. J. Magn. Reson. Imaging 2013;37:1195–1201. © 2012 Wiley Periodicals, Inc.