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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study
Andreas Fellgiebel1, Martin Mazanek, Catharina Whybra
1Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Strasse 8, 55131 Mainz, Germany. fellgiebel@psychiatrie.klinik.uni-mainz.de
Abstract:
Fabry disease (FD) is a lysosomal storage disorder that is associated with marked cerebrovascular disease. Conventional MRI shows a progressive load of white matter lesions (WMLs) due to cerebral vasculopathy in the course of FD. To quantify brain structural changes in clinically affected male and female patients with FD we performed a prospective Diffusion-Tensor Imaging (DTI) study in 27 adult Fabry patients (13m, 14f) and 21 age-matched controls (12 m, 9f). Global Mean Diffusivity (MD) was increased in FD (P = 0.003) whereas global Fractional Anisotropy (FA) did not differ significantly between FD and controls. Even FD patients without significant WMLs (9m, 9f) showed increased global MD (P = 0.004). Regions of interest with significant MD elevations were located in the frontal, parietal and temporal white matter. No differences of thalamic and hippocampal DTI measurements could be detected between FD and controls. DTI parameters did not differ between male and female patients. The data provide the first evidence of a pattern of marked structural brain tissue alterations in adult FD male and female patients even without WMLs. DTI seems to be an appropriate diagnostic tool to quantify brain tissue integrity in FD. Moreover, this method could be favorable for longitudinal assessment of brain structure alterations in FD, and for monitoring the cerebral effects of enzyme replacement therapy.
Insights
Diffusion-Tensor Imaging (DTI) reveals structural brain changes in Fabry disease (FD) patients, even those without white matter lesions. This technique can quantify brain tissue integrity and monitor treatment effectiveness in FD.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Fabry disease (FD) is a lysosomal storage disorder causing significant cerebrovascular disease.
- Conventional MRI often shows progressive white matter lesions (WMLs) in FD patients.
- Brain structural alterations in FD, particularly in early stages, require sensitive quantification methods.
Purpose of the Study:
- To quantify brain structural changes in adult male and female Fabry disease patients using Diffusion-Tensor Imaging (DTI).
- To investigate if DTI can detect brain alterations in FD patients even in the absence of significant white matter lesions (WMLs).
- To assess the potential of DTI for longitudinal monitoring of cerebral changes in FD.
Main Methods:
- A prospective DTI study was conducted on 27 adult Fabry disease patients (13 males, 14 females) and 21 age-matched controls (12 males, 9 females).
- Global Mean Diffusivity (MD) and Fractional Anisotropy (FA) were analyzed.
- Regions of interest, including frontal, parietal, and temporal white matter, thalamus, and hippocampus, were examined.
Main Results:
- Global Mean Diffusivity (MD) was significantly increased in FD patients compared to controls (P = 0.003).
- FD patients without significant WMLs also exhibited increased global MD (P = 0.004).
- Elevated MD was observed in frontal, parietal, and temporal white matter; no significant differences were found in thalamic or hippocampal DTI parameters or between sexes.
Conclusions:
- DTI provides evidence of widespread structural brain tissue alterations in adult FD patients, irrespective of WMLs.
- DTI is a suitable tool for quantifying brain tissue integrity in FD and may aid in monitoring disease progression and treatment effects, including enzyme replacement therapy.
