Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study

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.