Voxel based analyses of diffusion tensor imaging in Fabry disease

Abstract

Background: Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular disease. Conventional MRI shows an extensive load of white matter lesions (WMLs) which may already be present at an early stage in the disease. Objective: Investigator independent and sensitive quantification of structural changes in the brain in clinically affected men and women with FD. Methods: We performed a voxel based analysis of diffusion tensor images (DTI) in 25 patients with FD and 20 age matched normal controls. Results: DTI revealed significant increases in cerebral white matter mean diffusivity (MD) in patients with FD, which were pronounced in the periventricular white matter. Even the subgroup of patients without significant WMLs load (n = 18) showed increased diffusivity in the cerebral white matter. In gray matter areas, MD elevation was detected only in the posterior part of the thalamus, independent of the visible pulvinar alterations on T1 weighted images. Voxel based fractional anisotropy measurements did not differ significantly between patients and controls. Conclusions: The present study demonstrates the clinical feasibility of voxel based analysis of DTI as a sensitive tool to quantify brain tissue alterations in FD. The pattern of increased brain tissue diffusivity is probably due to microangiopathic alterations, mainly affecting the long perforating arteries.

Cerebrovascular Involvement in Fabry Disease

“…Standard CNS imaging modalities include computed tomography (CT) and MRI (Table 2). 13,88,126,[130][131][132] Contrast media are usually not required. The MRI protocol should include: T1-weighted; fluid attenuated inversion recovery/T2-weighted; T2*/susceptibility; and diffusion-weighted imaging sequences.…”

“…Currently, many asymptomatic Fabry patients are not being monitored regularly, but increasing awareness of the importance of silent infarcts and other stroke risk factors from the general stroke population should encourage neurologists to monitor Fabry patients for signs of early CNS involvement periodically, at least on a clinical basis, using appropriate imaging studies when indicated (Table 2). 13,88,126,[130][131][132] Other imaging techniques, such as DTI and 3-dimensional T1-acquisition, are not used as routine investigations for patients with FD, but can provide useful clinical information (Table 2). 13,88,126,[130][131][132] Of note, voxel-based analysis of DTI images has been shown to be an investigator-independent and sensitive tool for evaluating early white matter injury in patients with FD, allowing direct comparison with control subjects.…”

“…13,88,126,[130][131][132] Other imaging techniques, such as DTI and 3-dimensional T1-acquisition, are not used as routine investigations for patients with FD, but can provide useful clinical information (Table 2). 13,88,126,[130][131][132] Of note, voxel-based analysis of DTI images has been shown to be an investigator-independent and sensitive tool for evaluating early white matter injury in patients with FD, allowing direct comparison with control subjects. 81,131 These techniques may have value in longitudinal studies of disease progression or treatment effects.…”

Study on lumbosacral nerve root compression using DTI

“…The structure of fiber bundles observed by FA images was basically identical to that of the real fiber bundles (4). The voxel analysis of FA value can sensitively reflect brain lesions to a certain degree (6,7). The structure of fiber bundles of lumbosacral nerve roots is identical to that of intracranial nerve fibers, so their imaging principles are identical.…”

“…Since Clark et al (5) applied DWI in the spinal cord in 1999, the application of DTI in the spinal cord already has certain initial experience from ex vivo; in vivo animal to human. DTI is sensitive to the appearance of disease, but currently, studies on spinal cord DTI are scarce (6,7). This is mainly due to the special structure of the spinal cord.…”