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J Neurol Neurosurg Psychiatry 78:964-969 doi:10.1136/jnnp.2006.112987
  • Paper

Voxel based analyses of diffusion tensor imaging in Fabry disease

Open Access
  1. J Albrecht1,
  2. P R Dellani1,
  3. M J Müller2,
  4. I Schermuly2,
  5. M Beck3,
  6. P Stoeter1,
  7. A Gerhard2,
  8. A Fellgiebel2
  1. 1Institute of Neuroradiology, Children’s Hospital of the University of Mainz, Mainz, Germany
  2. 2Department of Psychiatry, Children’s Hospital of the University of Mainz, Mainz, Germany
  3. 3Centre for Lysosomal Storage Disorders, Children’s Hospital of the University of Mainz, Mainz, Germany
  1. Correspondence to:
 Dr A Fellgiebel
 Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Str 8, 55131 Mainz, Germany; fellgiebel{at}psychiatrie.klinik.uni-mainz.de
  • Received 10 December 2006
  • Accepted 14 March 2007
  • Revised 5 March 2007
  • Published Online First 20 April 2007

Abstract

Background: Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular disease. Conventional MRI shows an extensive load of white matter lesions (WMLs) which may already be present at an early stage in the disease.

Objective: Investigator independent and sensitive quantification of structural changes in the brain in clinically affected men and women with FD.

Methods: We performed a voxel based analysis of diffusion tensor images (DTI) in 25 patients with FD and 20 age matched normal controls.

Results: DTI revealed significant increases in cerebral white matter mean diffusivity (MD) in patients with FD, which were pronounced in the periventricular white matter. Even the subgroup of patients without significant WMLs load (n = 18) showed increased diffusivity in the cerebral white matter. In gray matter areas, MD elevation was detected only in the posterior part of the thalamus, independent of the visible pulvinar alterations on T1 weighted images. Voxel based fractional anisotropy measurements did not differ significantly between patients and controls.

Conclusions: The present study demonstrates the clinical feasibility of voxel based analysis of DTI as a sensitive tool to quantify brain tissue alterations in FD. The pattern of increased brain tissue diffusivity is probably due to microangiopathic alterations, mainly affecting the long perforating arteries.

Footnotes

  • Published Online First 20 April 2007

  • Competing interests: None.

Open Access

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