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DOI: 10.1148/radiol.2412051122
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Subcortical Damage and Cortical Functional Changes in Men and Women with Fabry Disease: A Multifaceted MR Study1

Cinzia Gavazzi, MD, Walter Borsini, MD, Laura Guerrini, MD, Riccardo Della Nave, MD, Maria Assunta Rocca, MD, Carlo Tessa, MD, PhD, Suzanne Buchner, MD, Giacomo Belli, MSc, Massimo Filippi, MD, Natale Villari, MD and Mario Mascalchi, MD, PhD

1 From the Radiodiagnostic Section, Department of Clinical Physiopathology (C.G., L.G., R.D.N., C.T., N.V., M.M.), and Neurological Clinic, Department of Neurological Sciences (W.B., S.B.), University of Florence, Viale Morgagni 85, Florence, Italy; Neuroimaging Research Unit, San Raffaele Hospital and University, Milan, Italy (M.A.R., M.F.); and Department of Medical Physics, Careggi Hospital, Florence, Italy (G.B.). Received July 4, 2005; revision requested September 6; revision received October 1; accepted October 18; final version accepted January 9, 2006. Address correspondence to M.M. (e-mail: m.mascalchi{at}dfc.unifi.it).


Figure 1
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  		Figure 1: Transverse FLAIR MR (6000/100/2100) images in patients with FD show examples of varying extent of white matter changes (leukoaraiosis, increased signal intensity) according to the FSS, with a score of 2 in a 36-year-old man (left), a score of 5 in a 52-year-old man (middle), and a score of 6 in a 57-year-old woman (right).

 

Figure 2
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  		Figure 2a: (a) Transverse FLAIR MR (6000/100/2100) image shows location of the 2 x 2 x 2-cm voxel (box) in the frontal interhemispheric regions for 1H MR spectroscopy. (b) Example of proton spectrum obtained with a point-resolved proton spectroscopy technique (2000/272) in a patient with FD shows lack of overt abnormalities.

 

Figure 2
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  		Figure 2b: (a) Transverse FLAIR MR (6000/100/2100) image shows location of the 2 x 2 x 2-cm voxel (box) in the frontal interhemispheric regions for 1H MR spectroscopy. (b) Example of proton spectrum obtained with a point-resolved proton spectroscopy technique (2000/272) in a patient with FD shows lack of overt abnormalities.

 

Figure 3
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  		Figure 3a: (a) Sagittal, (b) coronal, and (c) transverse projections of the t value maps related to "patients with FD versus healthy control subjects" during repetitive flexion-extension of the last four fingers of the right hand. Dark areas represent clusters of voxels of significantly increased activations in patients, with a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected).

 

Figure 3
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  		Figure 3b: (a) Sagittal, (b) coronal, and (c) transverse projections of the t value maps related to "patients with FD versus healthy control subjects" during repetitive flexion-extension of the last four fingers of the right hand. Dark areas represent clusters of voxels of significantly increased activations in patients, with a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected).

 

Figure 3
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  		Figure 3c: (a) Sagittal, (b) coronal, and (c) transverse projections of the t value maps related to "patients with FD versus healthy control subjects" during repetitive flexion-extension of the last four fingers of the right hand. Dark areas represent clusters of voxels of significantly increased activations in patients, with a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected).

 

Figure 4
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  		Figure 4: Statistical parametric maps color-coded for t values superimposed on high-spatial-resolution, A, B, transverse and, C, D, sagittal T1-weighted (25/4.6, flip angle of 30°) turbo gradient-echo MR images show areas of increased cortical activations in patients with FD in comparison with healthy control subjects during a simple motor task of the right hand. Images show primary sensorimotor cortex, bilaterally (A); contralateral intraparietal sulcus (B); contralateral (A, C) and ipsilateral (A) cingulated motor area; and contralateral secondary motor area (D).

 

Figure 5
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  		Figure 5: Graph shows correlation in patients with FD between increased activation of the contralateral primary sensorimotor cortex (SMC) during finger tapping of the right hand and extent of cerebral white matter changes evaluated with the FSS.

 




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