Background: The in vivo determination of parenchymal involvement is important to evaluate disease burden. Proton MRS imaging (1H-MRSI) permits simultaneous measurement of N-acetylaspartate (NA), a putative neuron-specific molecule, choline-containing compounds, creatine-phosphocreatine, and lactate from four 15-mm slices divided into 0.84-mL single-volume elements.
Objective: To assess the cortical and subcortical neuropathology in Fabry disease (FD).
Methods: Regions of interest (ROIs) were selected from several cortical and subcortical locations in nine FD patients. Mean ROI metabolite ratios were compared with control values.
Results: FD patients showed a widespread pattern of cortical and subcortical NA reduction. Seven patients showed discrete MRI abnormalities consisting of white matter hyperintensities or basal ganglia infarcts.
Conclusion: We found diffuse neuronal involvement in FD extending beyond the areas of MRI-visible cerebrovascular abnormalities. 1H-MRSI may become useful in therapeutic trials.