Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry
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FUNCTIONAL NEURORADIOLOGY
Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry study Sirio Cocozza 1 & Simona Schiavi 2 & Giuseppe Pontillo 1 & Matteo Battocchio 2 & Eleonora Riccio 3 & Simona Caccavallo 4 & Camilla Russo 1 & Teodolinda Di Risi 4,5 & Antonio Pisani 4 & Alessandro Daducci 2 & Arturo Brunetti 1 Received: 9 June 2020 / Accepted: 8 July 2020 # The Author(s) 2020
Abstract Purpose Recent evidences have suggested the possible presence of an involvement of the extrapyramidal system in Fabry disease (FD), a rare X-linked lysosomal storage disorder. We aimed to investigate the microstructural integrity of the main tracts of the cortico-striatal-thalamo-cortical loop in FD patients. Methods Forty-seven FD patients (mean age = 42.3 ± 16.3 years, M/F = 28/21) and 49 healthy controls (mean age = 42.3 ± 13.1 years, M/F = 19/28) were enrolled in this study. Fractional anisotropy (FA), axial (AD), radial (RD), and mean diffusivity (MD) maps were computed for each subject, and connectomes were built using a standard atlas. Diffusion metrics and connectomes were then combined to carry on a diffusion MRI tractometry analysis. The main afferent and efferent pathways of the cortico-striatal-thalamo-cortical loop (namely, bundles connecting the precentral gyrus (PreCG) with the striatum and the thalamus) were evaluated. Results We found the presence of a microstructural involvement of cortico-striatal-thalamo-cortical loop in FD patients, predominantly affecting the left side. In particular, we found significant lower mean FA values of the left cortico-striatal fibers (p = 0.001), coupled to higher MD (p = 0.001) and RD (p < 0.001) values, as well as higher MD (p = 0.01) and RD (p = 0.01) values at the level of the thalamo-cortical fibers. Conclusion We confirmed the presence of an alteration of the extrapyramidal system in FD patients, in line with recent evidences suggesting the presence of brain changes as a possible reflection of the subtle motor symptoms present in this condition. Our results suggest that, along with functional changes, microstructural damage of this pathway is also present in FD patients. Keywords Fabry disease . Magnetic resonance imaging . Brain . Tractometry
Introduction Fabry disease (FD) is a rare X-linked lysosomal storage caused by an incomplete catabolization and subsequent
* Giuseppe Pontillo [email protected] 1
Department of Advanced Biomedical Sciences, University “Federico II”, Naples, Italy
2
Department of Computer Science, University of Verona, Verona, Italy
3
National Research Council of Italy (IRIB CNR), Institute for Biomedical Research and Innovation, Palermo, Italy
4
Department of Public Health, Nephrology Unit, University “Federico II”, Naples, Italy
5
CEINGE - Advanced Biotechnologies, Naples, Italy
intracellular accumulation of the glycosphingolipid globotriaosylceramide (Gb3), due to the defective activity of the α-galactosidase A (α-GalA) enzyme [1]. The unmetabolized glycosphingolipid the
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