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

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.