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Related Experiment Videos

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

Journal of Neurology
|March 3, 2006
PubMed
Summary
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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).

Related Experiment Videos

  • 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.