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Abstract
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.
GLOSSARY
- CBF=
- cerebral blood flow;
- FC=
- functional connectivity;
- FD=
- Fabry disease;
- GM=
- gray matter;
- HC=
- healthy control;
- HD=
- Huntington disease;
- MR=
- magnetic resonance;
- MS=
- multiple sclerosis;
- 9-HPT=
- 9-hole pegboard test;
- PCG=
- precentral gyri;
- PD=
- Parkinson disease;
- RMS=
- root mean square;
- RS-fMRI=
- resting-state functional magnetic resonance imaging;
- SARA=
- Scale for the Assessment and Rating of Ataxia;
- TUG=
- Timed Up and Go Test;
- UPDRS=
- Unified Parkinson's Disease Rating Scale;
- VBM=
- voxel-based morphometry;
- WMH=
- white matter hyperintensity
Footnotes
↵* These authors contributed equally to this work as senior authors.
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Supplemental data at Neurology.org
Editorial, page 1784
- Received September 16, 2016.
- Accepted in final form January 20, 2017.
- © 2017 American Academy of Neurology
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- Author response to Sechi et al.
- Early involvement of motor circuits in Fabry disease
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