Objective:
To evaluate the presence of functional connectivity (FC) alterations of the motor circuits in patients with Fabry disease
(FD) and their possible correlation with clinical variables with a resting-state (RS) fMRI analysis.
Methods:
In our
cross-sectional study, 32 patients with FD with genetically confirmed
classic diagnosis of FD (12 men, mean age 43.3
± 12.2 years) were enrolled along with 35
healthy controls (HCs) of comparable age and sex (14 men, mean age 42.1 ±
14.5 years).
RS-fMRI data were analyzed with a seed-based
approach, with 2 different seeds for right and left motor cortex.
Patients with
FD underwent a clinical examination for the
assessment of different motor functions. Correlations with clinical
variables
were probed with the Spearman correlation
coefficient.
Results:
A reduction of FC was found in patients with FD compared to HCs between both motor cortices and 2 clusters encompassing,
for each side, the caudate and lenticular nucleus (
p
< 5 × 10
−4
and
p
< 10
−8
for right and left motor cortex, respectively) and between the left motor cortex and dentate nuclei (
p
= 0.01) and Crus 1 in the right cerebellar hemisphere (
p
= 0.001). No significant results emerged in tests for possible correlations of FC with clinical scores.
Conclusions:
An
alteration of the corticostriatal pathway is present in FD, in line with
the recently suggested subclinical involvement
of motor circuits in this disease. These results
shed new light on the pattern of cerebral involvement in FD.