{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:43Z","timestamp":1791993943960,"version":"4.4.0"},"reference-count":78,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III","award":["PI19\/01886"],"award-info":[{"award-number":["PI19\/01886"]}]},{"name":"European Regional Development Fund (FEDER)","award":["PI19\/01886"],"award-info":[{"award-number":["PI19\/01886"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase \u03b1-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). The endothelial accumulation of these substrates results in injury to multiple organs, mainly the kidney, heart, brain and peripheral nervous system. The literature on FD and central nervous system involvement is scarce when focusing on alterations beyond cerebrovascular disease and is nearly absent in regard to synaptic dysfunction. In spite of that, reports have provided evidence for the CNS\u2019 clinical implications in FD, including Parkinson\u2019s disease, neuropsychiatric disorders and executive dysfunction. We aim to review these topics based on the current available scientific literature.<\/jats:p>","DOI":"10.3390\/ijms24065246","type":"journal-article","created":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T02:30:33Z","timestamp":1678415433000},"page":"5246","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8604-2230","authenticated-orcid":false,"given":"Elisenda","family":"Cort\u00e9s-Saladelafont","sequence":"first","affiliation":[{"name":"Unit of Inherited Metabolic Diseases and Neuropediatrics, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain"},{"name":"Department of Pediatrics, Facultat de Medicina, Universitat Aut\u00f2noma de Barcelona, Campus Can Ruti, 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9391-4316","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Fern\u00e1ndez-Mart\u00edn","sequence":"additional","affiliation":[{"name":"Rare Diseases & Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain"},{"name":"Internal Medicine Department, Complejo Hospitalario Universitario de Vigo, 36312 Vigo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1098-3376","authenticated-orcid":false,"given":"Saida","family":"Ortolano","sequence":"additional","affiliation":[{"name":"Rare Diseases & Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Carnicer-C\u00e1ceres, C., Arranz-Amo, J., Cea-Arestin, C., Camprodon-Gomez, M., Moreno-Martinez, D., Lucas-Del-Pozo, S., Molt\u00f3-Abad, M., Tigri-Santi\u00f1a, A., Agraz-Pamplona, I., and Rodriguez-Palomares, J. 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