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Published on: July 18, 2008
Case Report: Decoding genetic risks of vascular parkinsonism: a case series
Ali Shalash1, Salma El-Shafie2, Peter George1
1Neurology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
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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