CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1579454
Decoding Genetic Risks of Vascular Parkinsonism: A Case Series
Provisionally accepted
Ali Soliman Shalash1*
Salma El-Shafie2
Peter George1
Mai Fathy1
Mohamed H. Yousef2
Tamer Roushdy1Mahmoud El-Belkimy1Mohamed Ossama Abdulghani1
Mohamed Mosaad Salama2*- 1Ain Shams University, Cairo, Egypt
- 2American University in Cairo, Cairo, Cairo, Egypt
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Vascular parkinsonism (VaP) is a subtype of parkinsonism which needs better characterization of its risks and determinants.The aim of this report is to present an understanding of genetic risks of vascular parkinsonism Methods Five participants diagnosed with VaP were recruited and Whole Exome Sequencing (WES) was performed on their samples to analyze deleterious variants in relevant genes associated with vascular and parkinsonian diseasesWe identified several candidate risk variants for VaP in our patients, particularly in LRRK2, PLA2G6, TGM6, BSN, UBR4, CD36 and NOTCH3, that are di erent from the classical Parkinson's disease risk genes -associated variantsIn 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
Keywords: vascular, parkinsonism, leukoencephalopathy, Genetics, Egyptian
Received: 20 Feb 2025; Accepted: 27 Jun 2025.
Copyright: © 2025 Shalash, El-Shafie, George, Fathy, Yousef, Roushdy, El-Belkimy, Abdulghani and Salama. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ali Soliman Shalash, Ain Shams University, Cairo, Egypt
Mohamed Mosaad Salama, American University in Cairo, Cairo, 11511, Cairo, Egypt
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