title: Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study.
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 × 10-4andp< 10-8for 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.
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy. siriococozza@hotmail.it.
authors.forename: Sirio
authors.initials: S
authors.lastname: Cocozza
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Gaia
authors.initials: G
authors.lastname: Olivo
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Ugga
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Migliaccio
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Brescia Morra
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Arturo
authors.initials: A
authors.lastname: Brunetti
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Quarantelli
authors.affiliation: From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Tedeschi
mesh_terms: D000328:Adult; D001931:Brain Mapping; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000503:physiopathology; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009044:Motor Cortex / Q000000981:diagnostic imaging / Q000503:physiopathology*; D009434:Neural Pathways / Q000000981:diagnostic imaging / Q000503:physiopathology; D012146:Rest