Case Report: Decoding genetic risks of vascular parkinsonism: a case series
Year: 2025
Type: article
Study design: Case Report
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.
Source: Frontiers in Genetics
Authors: Ali Shalash, Salma El-Shafie, Peter George, Tamer Roushdy, Mai Fathy, Mohamed H. Yousef, Mahmoud El-Belkimy, Mohamed Ossama Abdulghani, Mohamed Salama
Institutions: Ain Shams University, American University in Cairo
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4412924851