title: Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study.
abstract: OBJECTIVE
  To prospectively compare brain magnetic resonance (MR) imaging and hydrogen 1 (1H) MR spectroscopy findings and to use functional MR imaging to explore the patterns of brain activation in men and women with Fabry disease (FD).
  
  
  METHODS
  Eight men and eight women with FD (mean age, 38.8 years +/- 13.9 [standard deviation]) with absent or mild neurologic deficit and 16 healthy control subjects (eight men and eight women; mean age, 42.7 years +/- 15.3) gave informed consent to participate in the study, which was approved by the local ethical committee. Patients and control subjects underwent MR imaging, 1H MR spectroscopy of the frontal cortex and subcortical white matter, and functional MR imaging during repetitive flexion-extension of the last four fingers of the right hand. Extent of cerebral white matter damage was rated on fluid-attenuated inversion recovery MR images by using a visual score. Areas of activation were identified by using statistical parametric mapping software and the adoption of a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected).
  
  
  RESULTS
  Men and women with FD showed a similar distribution of cerebral white matter changes, lacunar and cortical infarcts, small hemorrhages, and vertebrobasilar dolichoectasia. No significant (P > .05) difference was observed between patients with FD and control subjects for concentration of N-acetylaspartate, creatine, and choline. During the motor task, patients showed recruitment of additional cortical areas in comparison with control subjects. Increased activation of the contralateral sensorimotor area correlated (P = .002) with extent of white matter damage.
  
  
  CONCLUSIONS
  Subcortical ischemic changes in men and women with FD are similar and are associated with increased recruitment of the sensorimotor network during a simple motor task, which might limit the functional effect of the white matter small-vessel disease.
authors.affiliation: Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Viale Morgagni 85, Florence, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gavazzi
authors.forename: Walter
authors.initials: W
authors.lastname: Borsini
authors.forename: Laura
authors.initials: L
authors.lastname: Guerrini
authors.forename: Riccardo
authors.initials: R
authors.lastname: Della Nave
authors.forename: Maria Assunta
authors.initials: MA
authors.lastname: Rocca
authors.forename: Carlo
authors.initials: C
authors.lastname: Tessa
authors.forename: Suzanne
authors.initials: S
authors.lastname: Buchner
authors.forename: Giacomo
authors.initials: G
authors.lastname: Belli
authors.forename: Massimo
authors.initials: M
authors.lastname: Filippi
authors.forename: Natale
authors.initials: N
authors.lastname: Villari
authors.forename: Mario
authors.initials: M
authors.lastname: Mascalchi
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D016022:Case-Control Studies; D000795:Fabry Disease / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D016014:Linear Models; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D011446:Prospective Studies; D018709:Statistics, Nonparametric