Subcortical Damage And Cortical Functional Changes In Men And Women With Fabry Disease: A Multifaceted Mr Study

Purpose: To prospectively compare brain magnetic resonance (MR) imaging and hydrogen 1 (H-1) MR spectroscopy findings and to use functional MR imaging to explore the patterns of brain activation in men and women with Fabry disease (FD).Materials and 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, H-1 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 in-farcts, 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.Conclusion: 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. (c) RSNA, 2006