Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study.
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.
Gavazzi
Cinzia
C
Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Viale Morgagni 85, Florence, Italy.
Borsini
Walter
W
Guerrini
Laura
L
Della Nave
Riccardo
R
Rocca
Maria Assunta
MA
Tessa
Carlo
C
Buchner
Suzanne
S
Belli
Giacomo
G
Filippi
Massimo
M
Villari
Natale
N
Mascalchi
Mario
M
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