Skip to main content

Table 2 The major advanced imaging findings in Fabry disease

From: Neuroimaging in Fabry disease: current knowledge and future directions

Advanced imaging findings
Brain tissue volume In absence of a severe cerebrovascular pathology, global normalised grey and white matter volumes are preserved in FD patients A global reduction of the intracranial volume has been observed, suggesting the presence of an abnormal neural development [61] Voxel-based morphometry studies showed clusters of reduced grey matter density in bilateral thalami and hippocampi [61, 62] Hippocampal atrophy increases over years, and does not correlate with lesion load [26]
Diffusion tensor imaging A diffuse and significant microstructural white matter involvement is present in FD [63] Elevated total brain parenchymal average diffusion constant has been observed, independent from white matter lesions [64] Increased mean diffusivity and reduced fractional anisotropy in frontal, parietal and temporal normal-appearing white matter [65, 66] Voxel-based DTI showed the presence of microstructural damage affecting also the thalamus [67]
Functional MRI Significant subtle functional changes seem to occur in FD, independently from major cerebrovascular events [63, 68] During motor task, FD patients showed increased activation of additional cortical regions [69] Altered corticostriatal functional connectivity was observed, suggesting a subclinical involvement of motor circuits [68] Functional changes involve not only the motor, but also cognitive functions, with alterations of the so-called default mode network [63]
Other MRI techniques MRI spectroscopy Magnetisation transfer Quantitative MRI MRI Arterial spin labelling
Inconstant reduction in NAA/Cr ratio in different brain areas, affecting both cortical and subcortical structures [70,71,72] Reduced magnetisation transfer ratio and bound-pool fraction in the normal-appearing white matter, suggesting a decrease of myelin density [73, 74] Increased susceptibility values in the striato-nigral pathway of FD patients [75] Increased cerebral flow in the white matter, with particular reference to the splenium of the corpus callosum [76]
Nuclear medicine Increased relative cerebral blood flow of the posterior and periventricular regions [35] The altered relative cerebral blood flow seems to reverse after prolonged enzyme replacement therapy [77] No significant global glucose metabolism changes affects the brain of FD patients [37] Hypometabolic areas only observed in regions with infarcts or haemorrhages on MRI scans [78]