Case Report: Decoding genetic risks of vascular parkinsonism: a case series

Funding Sponsor

American University in Cairo

Author's Department

Institute of Global Health & Human Ecology

Second Author's Department

Biology Department

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https://doi.org/10.3389/fgene.2025.1579454

All Authors

Ali Shalash Salma El-Shafie Peter George Tamer Roushdy Mai Fathy Mohamed H. Yousef Mahmoud El-Belkimy Mohamed Ossama Abdulghani Mohamed Salama

Document Type

Research Article

Publication Title

Frontiers in Genetics

Publication Date

1-1-2025

doi

10.3389/fgene.2025.1579454

Abstract

Background: Vascular parkinsonism (VaP) is a subtype of parkinsonism which needs better characterization of its risks and determinants. Objective: 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 to analyze deleterious variants in relevant genes associated with vascular and parkinsonian diseases. Results: 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’s disease -associated variants. Conclusion: 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.

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