Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study.

Fabry disease brain connectivity magnetic resonance imaging microstructure informed tractography multimodal study

Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
2022
Historique:
received: 03 01 2022
revised: 17 05 2022
accepted: 20 07 2022
entrez: 1 8 2022
pubmed: 2 8 2022
medline: 2 8 2022
Statut: epublish

Résumé

Central nervous system involvement in Fabry disease, a rare systemic X-linked lysosomal storage disorder, is characterized by the presence of heterogeneous but consistent functional and microstructural changes. Nevertheless, knowledge about the degree and extension of macro-scale brain connectivity modifications is to date missing. In this work, we performed connectomic analyses of diffusion and resting-state functional MRI to investigate changes of both structural and functional brain organization in Fabry disease, as well as to explore the relationship between the two and their clinical correlates. In this retrospective cross-sectional study, 46 patients with Fabry disease (28F, 42.2 ± 13.2years) and 49 healthy controls (21F, 42.3 ± 16.3years) were included. All subjects underwent an MRI examination including anatomical, diffusion and resting-state functional sequences. Images were processed to obtain quantitative structural and functional connectomes, where the connections between regions of interest were weighted by the total intra-axonal signal contribution of the corresponding bundle and by the correlation between blood-oxygen level-dependent time series, respectively. We explored between-group differences in terms of both global network properties, expressed with graph measures and specific connected subnetworks, identified using a network-based statistics approach. As exploratory analyses, we also investigated the possible association between cognitive performance and structural and functional connectome modifications at both global and subnetwork level in a subgroup of patients (

Identifiants

pubmed: 35912136
doi: 10.1093/braincomms/fcac187
pii: fcac187
pmc: PMC9327118
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcac187

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.

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Auteurs

Ilaria Gabusi (I)

Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona 37134, Italy.

Giuseppe Pontillo (G)

Department of Advanced Biomedical Sciences, University "Federico II", Naples 80131, Italy.

Maria Petracca (M)

Department of Human Neuroscience, Sapienza University of Rome, Rome 00189, Italy.

Matteo Battocchio (M)

Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona 37134, Italy.

Sara Bosticardo (S)

Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona 37134, Italy.

Teresa Costabile (T)

Department of Clinical and Experimental Medicine, Multiple Sclerosis Centre, II Division of Neurology, ''Luigi Vanvitelli" University, Naples 80138, Italy.

Alessandro Daducci (A)

Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona 37134, Italy.

Chiara Pane (C)

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples 80131, Italy.

Eleonora Riccio (E)

Department of Public Health, Nephrology Unit, University "Federico II", Naples 80131, Italy.

Antonio Pisani (A)

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples 80131, Italy.

Arturo Brunetti (A)

Department of Advanced Biomedical Sciences, University "Federico II", Naples 80131, Italy.

Simona Schiavi (S)

Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona 37134, Italy.

Sirio Cocozza (S)

Department of Advanced Biomedical Sciences, University "Federico II", Naples 80131, Italy.

Classifications MeSH