title: Diffusion tensor imaging and brain volumetry in Fabry disease patients.
abstract: BACKGROUND
  Fabry disease is a rare lysosomal storage disorder leading to cellular accumulation of globotriaosylceramide, especially in blood vessels. It is associated with severe early onset cerebrovascular disease and kidney and heart failure. The purpose of this study was to reveal possible disturbances in white matter integrity in Fabry disease patients using voxelwise diffusion-tensor imaging (DTI) analysis.
  
  
  METHODS
  Twelve Fabry disease patients, along with 13 healthy controls, underwent DTI and structural MRI. Voxel-based analysis of the DTI data was performed to assess possible differences in DTI parameters between Fabry disease patients and healthy controls. A selective region of interest analysis was performed for healthy volunteers and Fabry disease patients having a mild burden of T2-hyperintense lesions. We also measured normalised brain tissue volumes and performed a voxel-based volume analysis for grey matter.
  
  
  RESULTS
  Voxel-based analysis of DTI data showed areas of significantly reduced fractional anisotropy and increased mean diffusivity in patients with Fabry disease. Eight patients had a mild burden of white matter lesions on their T2 scans. Region of interest analysis on areas showing reduced fractional anisotropy in voxelwise analysis also revealed reduced fractional anisotropy values in this patient group compared to eight healthy volunteers. The brain volume analyses did not reveal significant differences between the Fabry disease patients and the controls.
  
  
  CONCLUSIONS
  These findings suggest a microstructural damage in brain white matter of Fabry disease patients, which can be revealed before excessive white matter lesions load is visible on conventional MR scans.
authors.affiliation: Medical Imaging Centre of Southwest Finland, Turku University Hospital, PO Box 52, 20521 Turku, Finland. teempaa@utu.fi
authors.forename: Teemu
authors.initials: T
authors.lastname: Paavilainen
authors.forename: Virva
authors.initials: V
authors.lastname: Lepomäki
authors.forename: Jani
authors.initials: J
authors.lastname: Saunavaara
authors.forename: Ronald
authors.initials: R
authors.lastname: Borra
authors.forename: Pirjo
authors.initials: P
authors.lastname: Nuutila
authors.forename: Ilkka
authors.initials: I
authors.lastname: Kantola
authors.forename: Riitta
authors.initials: R
authors.lastname: Parkkola
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D000795:Fabry Disease / Q000473:pathology*; D005260:Female; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D021621:Imaging, Three-Dimensional / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D009929:Organ Size; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult