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The objective of this study is to provide a quantitative, non-invasive demonstration of this phenomenon using quantitative MRI (qMRI).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In this retrospective, monocentric cross-sectional study conducted from November 2015 to July 2018, FD patients and healthy controls (HC) underwent an MRI scan with a relaxometry protocol to compute longitudinal relaxation rate (R1) maps to evaluate gray (GM) and white matter (WM) lipid accumulation. In a subgroup of 22 FD patients, clinical (FAbry STabilization indEX -FASTEX- score) and biochemical (residual \u03b1-galactosidase activity) variables were correlated with MRI data. Quantitative maps were analyzed at both global (\u201cbulk\u201d analysis) and regional (\u201cvoxel-wise\u201d analysis) levels.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Data were obtained from 42 FD patients (mean age\u2009=\u200942.4\u2009\u00b1\u200912.9, M\/F\u2009=\u200916\/26) and 49 HC (mean age\u2009=\u200942.3\u2009\u00b1\u200916.3, M\/F\u2009=\u200928\/21). Compared to HC, FD patients showed a widespread increase in R1 values encompassing both GM (<jats:italic>p<\/jats:italic><jats:sub>FWE<\/jats:sub>\u2009=\u20090.02) and WM (<jats:italic>p<\/jats:italic><jats:sub>FWE<\/jats:sub>\u2009=\u20090.02) structures. While no correlations were found between increased R1 values and FASTEX score, a significant negative correlation emerged between residual enzymatic activity levels and R1 values in GM (<jats:italic>r<\/jats:italic>\u2009=\u2009-0.57, <jats:italic>p<\/jats:italic>\u2009=\u20090.008) and WM (<jats:italic>r<\/jats:italic>\u2009=\u2009-0.49, <jats:italic>p<\/jats:italic>\u2009=\u20090.03).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We demonstrated the feasibility and clinical relevance of non-invasively assessing cerebral Gb3 accumulation in FD using MRI. R1 mapping might be used as an in-vivo quantitative neuroimaging biomarker in FD patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00234-024-03380-5","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T05:02:00Z","timestamp":1716267720000},"page":"1593-1601","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry"],"prefix":"10.1007","volume":"66","author":[{"given":"Giuseppe","family":"Pontillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Tranfa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Scaravilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Monti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Capuano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Riccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Brunetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Palma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0300-5160","authenticated-orcid":false,"given":"Sirio","family":"Cocozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,21]]},"reference":[{"key":"3380_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP (2010) Fabry disease. 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