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Updated: Jul 15, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Voxel based analyses of diffusion tensor imaging in Fabry disease
J Albrecht1, P R Dellani, M J Müller
1Institute of Neuroradiology, Children's Hospital of the University of Mainz, Mainz, Germany.
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.
Insights
Diffusion tensor imaging (DTI) reveals increased brain diffusivity in Fabry disease (FD) patients, even those without significant white matter lesions. This sensitive tool quantifies microangiopathic alterations in FD.
Area of Science:
- Neuroimaging
- Neurology
- Biochemistry
Background:
- Fabry disease (FD) is a genetic lysosomal storage disorder.
- FD is characterized by significant cerebrovascular disease.
- Conventional MRI reveals white matter lesions (WMLs) in FD patients, even early in the disease course.
Purpose of the Study:
- To develop an investigator-independent and sensitive method for quantifying brain structural changes in FD patients.
- To assess brain alterations in both male and female FD patients.
Main Methods:
- Voxel-based analysis of diffusion tensor images (DTI).
- Study included 25 FD patients and 20 age-matched healthy controls.
- Compared diffusion parameters between FD patients and controls.
Main Results:
- DTI showed significantly increased mean diffusivity (MD) in the cerebral white matter of FD patients, particularly in periventricular regions.
- Increased white matter diffusivity was observed even in FD patients without substantial WMLs.
- Elevated MD was detected in the posterior thalamus, independent of T1-weighted image findings. Fractional anisotropy did not differ significantly.
Conclusions:
- Voxel-based DTI analysis is a clinically feasible and sensitive method for quantifying brain tissue alterations in FD.
- The observed increase in brain tissue diffusivity likely results from microangiopathic changes, primarily affecting long perforating arteries.
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