{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T18:28:03Z","timestamp":1754159283442,"version":"3.41.2"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T00:00:00Z","timestamp":1753401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Vascular parkinsonism (VaP) is a subtype of parkinsonism which needs better characterization of its risks and determinants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this report is to present an understanding of genetic risks of vascular parkinsonism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Five participants diagnosed with VaP were recruited and Whole Exome Sequencing (WES) was performed to analyze deleterious variants in relevant genes associated with vascular and parkinsonian diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified several candidate risk variants for VaP in our patients, particularly in LRRK2, PLA2G6, TGM6, BSN, UBR4, CD36 and NOTCH3, that are different from the classical Parkinson\u2019s disease -associated variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this case series we highlighted the complexity of genetic contributions to VaP through predicted deleterious variants in genes associated with parkinsonism, cerebrovascular disease as well as collagen-related genes.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1579454","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T04:10:42Z","timestamp":1753416642000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Decoding genetic risks of vascular parkinsonism: a case series"],"prefix":"10.3389","volume":"16","author":[{"given":"Ali","family":"Shalash","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salma","family":"El-Shafie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"George","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamer","family":"Roushdy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Fathy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed H.","family":"Yousef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"El-Belkimy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Ossama","family":"Abdulghani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Salama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,7,25]]},"reference":[{"key":"B1","article-title":"Early-onset parkinsonism as presenting manifestation of CADASIL in a Mexican woman with NOTCH3 c.1732C>T pathogenic variant","volume-title":"International parkinson and movement disorder society","author":"Arbeu","year":"2024"},{"key":"B2","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/S1474-4422(19)30287-X","article-title":"The genetic architecture of Parkinson\u2019s disease","volume":"19","author":"Blauwendraat","year":"2020","journal-title":"Lancet Neurol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1186\/1471-2105-14-128","article-title":"Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool","volume":"14","author":"Chen","year":"2013","journal-title":"BMC Bioinforma."},{"key":"B4","doi-asserted-by":"publisher","first-page":"51","DOI":"10.31083\/J.JIN.2020.01.1203","article-title":"TGM6 variants in Parkinson\u2019s disease: clinical findings and functional evidence","volume":"19","author":"Chen","year":"2020","journal-title":"J. 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