Diffuse central neuronal involvement in Fabry disease - A proton MRS imaging study

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