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Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging.

Elin Haf Davies1, Kiran K Seunarine, Tina Banks

  • 1Institute of Child Health, University College London, London, WC1N 1EH, UK. E.Davies@ich.ucl.ac.uk

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Diffusion tensor imaging (DTI) shows white matter changes in children with Neuronopathic Gaucher disease (NGD). This technique may serve as a valuable biomarker for monitoring neurological dysfunction in NGD patients.

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Area of Science:

  • Neuroimaging
  • Neurology
  • Biomarkers

Background:

  • Neuronopathic Gaucher disease (NGD) lacks reliable biomarkers for monitoring neurological dysfunction.
  • Diffusion tensor imaging (DTI) offers in-vivo assessment of brain white matter microstructure.

Purpose of the Study:

  • To evaluate DTI's utility in visualizing and quantifying white matter integrity in pediatric patients with NGD and Type I Gaucher disease.

Main Methods:

  • DTI scans were acquired, and fractional anisotropy (FA), mean diffusivity (MD), axial (λ(axial)), and radial (λ(radial)) diffusivity maps were computed.
  • Tract-based spatial statistics (TBSS) enabled voxel-wise analysis of white matter structures against age-sex matched controls.

Main Results:

  • NGD patients exhibited microstructural white matter changes, particularly in the middle cerebellar peduncles, correlating with ataxia.
  • Type I Gaucher patients showed diffuse, non-specific changes without focal abnormalities.

Conclusions:

  • This pioneering study demonstrates DTI's potential as a surrogate marker for NGD.
  • Further research is warranted to explore DTI's clinical application in NGD studies.