Related Experiment Video
Updated: Jul 15, 2025
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study
Koen P A Baas1, Albert J Everard2, Simon Körver3
1From the Department of Radiology and Nuclear Medicine (K.P.A.B., A.J.N.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Background And Purpose:
White matter lesions are commonly found in patients with Fabry disease. Existing studies have shown elevated diffusivity in healthy-appearing brain regions that are commonly associated with white matter lesions, suggesting that DWI could help detect white matter lesions at an earlier stage This study explores whether diffusivity changes precede white matter lesion formation in a cohort of patients with Fabry disease undergoing yearly MR imaging examinations during a 5-year period.
Materials And Methods:
T1-weighted anatomic, FLAIR, and DWI scans of 48 patients with Fabry disease (23 women; median age, 44 years; range, 15-69 years) were retrospectively included. White matter lesions and tissue probability maps were segmented and, together with ADC maps, were transformed into standard space. ADC values were determined within lesions before and after detection on FLAIR images and compared with normal-appearing white matter ADC. By means of linear mixed-effects modeling, changes in ADC and ΔADC (relative to normal-appearing white matter) across time were investigated.
Results:
ADC was significantly higher within white matter lesions compared with normal-appearing white matter (P < .01), even before detection on FLAIR images. ADC and ΔADC were significantly affected by sex, showing higher values in men (60.1 [95% CI, 23.8-96.3] ×10-6mm2/s and 35.1 [95% CI, 6.0-64.2] ×10-6mm2/s), respectively. ΔADC increased faster in men compared with women (0.99 [95% CI, 0.27-1.71] ×10-6mm2/s/month). ΔADC increased with time even when only considering data from before detection (0.57 [95% CI, 0.01-1.14] ×10-6mm2/s/month).
Conclusions:
Our results indicate that in Fabry disease, changes in diffusion precede the formation of white matter lesions and that microstructural changes progress faster in men compared with women. These findings suggest that DWI may be of predictive value for white matter lesion formation in Fabry disease.
Insights
Diffusion changes in the brain precede white matter lesion formation in Fabry disease. These microstructural changes progress faster in men, suggesting diffusion-weighted imaging (DWI) may predict lesion development.
Area of Science:
- Neurology
- Radiology
- Biomedical Imaging
Background:
- White matter lesions are common in Fabry disease.
- Diffusion-weighted imaging (DWI) may detect early-stage lesions.
- Elevated diffusivity in healthy-appearing white matter is often observed.
Purpose of the Study:
- To investigate if diffusion changes precede white matter lesion formation in Fabry disease.
- To analyze these changes over a 5-year period using serial MRI.
- To assess the predictive value of diffusion changes for lesion development.
Main Methods:
- Retrospective analysis of MRI scans (T1, FLAIR, DWI) from 48 Fabry disease patients.
- Segmentation of white matter lesions and normal-appearing white matter.
- Calculation and analysis of apparent diffusion coefficient (ADC) and ΔADC values over time using linear mixed-effects modeling.
Main Results:
- ADC was significantly higher in white matter lesions than in normal-appearing white matter, even before FLAIR detection.
- Diffusion changes (ΔADC) were more pronounced and progressed faster in men than in women.
- ΔADC increased over time, even in regions before lesion detection.
Conclusions:
- Diffusion changes precede white matter lesion formation in Fabry disease.
- Microstructural changes in the brain progress more rapidly in men.
- DWI holds predictive value for white matter lesion development in Fabry disease.
