Voxel based analyses of diffusion tensor imaging in Fabry disease

• Published in: Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2007-09, Vol.78 (9), p.964-969
• Main Authors: Albrecht, J, Dellani, P R, Müller, M J, Schermuly, I, Beck, M, Stoeter, P, Gerhard, A, Fellgiebel, A
• Format: Article
• Language: English
• Subjects: Adult; Age; Anisotropy; Biological and medical sciences; Brain - metabolism; Brain - pathology; Case-Control Studies; Data processing; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diffusion; Diffusion Magnetic Resonance Imaging; diffusion tensor imaging; Disease; DTI; enzyme replacement therapy; Enzymes; ERT; Fabry disease; Fabry Disease - pathology; Feasibility Studies; Female; FLAIR; fluid attenuated inversion recovery; fractional anisotropy; Humans; Image Processing, Computer-Assisted - methods; Investigative techniques, diagnostic techniques (general aspects); Male; mean diffusivity; Medical sciences; Middle Aged; Nervous system; Neurology; Radiodiagnosis. Nmr imagery. Nmr spectrometry; regions of interest; ROI; Software; Stroke; Studies; Values; white matter lesion; WML; Womens health
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2006.112987

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.