Voxel based analyses of diffusion tensor imaging in Fabry disease

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.