{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T02:51:19Z","timestamp":1786935079241,"version":"build-2736575974"},"reference-count":232,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T00:00:00Z","timestamp":1719619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Anderson\u2013Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire body. Among its manifestation, the involvement of the central and peripheral nervous system is frequent. In recent decades, it has become evident that, besides cerebrovascular damage, a pure neuronal phenotype of AFD exists in the central nervous system, which is supported by clinical, pathological, and neuroimaging data. This neurodegenerative phenotype is often clinically characterized by an extrapyramidal component similar to the one seen in prodromal Parkinson\u2019s disease (PD). We analyzed the biological, clinical pathological, and neuroimaging data supporting this phenotype recently proposed in the literature. Moreover, we compared the neurodegenerative PD phenotype of AFD with a classical monogenic vascular disease responsible for vascular parkinsonism and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A substantial difference in the clinical and neuroimaging features of neurodegenerative and vascular parkinsonism phenotypes emerged, with AFD being potentially responsible for both forms of the extrapyramidal involvement, and CADASIL mainly associated with the vascular subtype. The available studies share some limitations regarding both patients\u2019 information and neurological and genetic investigations. Further studies are needed to clarify the potential association between AFD and extrapyramidal manifestations.<\/jats:p>","DOI":"10.3390\/cells13131131","type":"journal-article","created":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T03:38:27Z","timestamp":1719805107000},"page":"1131","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the Neurological Phenotype of Anderson\u2013Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7530-818X","authenticated-orcid":false,"given":"Marialuisa","family":"Zedde","sequence":"first","affiliation":[{"name":"Neurology Unit, Stroke Unit, Azienda Unit\u00e0 Sanitaria Locale-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7966-3525","authenticated-orcid":false,"given":"Ilaria","family":"Romani","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, 50139 Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6375-5783","authenticated-orcid":false,"given":"Alessandra","family":"Scaravilli","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences, University of Naples \u201cFederico II\u201d, 80133 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0300-5160","authenticated-orcid":false,"given":"Sirio","family":"Cocozza","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences, University of Naples \u201cFederico II\u201d, 80133 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0328-9642","authenticated-orcid":false,"given":"Luigi","family":"Trojano","sequence":"additional","affiliation":[{"name":"Dipartimento di Psicologia, Universit\u00e0 della Campania \u2018Luigi Vanvitelli\u2019, viale Ellittico 31, 81100 Caserta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Ragno","sequence":"additional","affiliation":[{"name":"Centro Medico Salute 23, Via O. 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