Two novel variants of VPS13C gene related Parkinsonism: A case report and literature review

This study identifies 2 novel pathogenic variants in VPS13C, expanding the known mutational spectrum of the gene. Additionally, brain MRI may serve as a potential imaging marker for disease progression. A review of the literature indicates that VPS13C-related Parkinsonism appears as a heterogeneous disorder, including PD and dementia with Lewy bodies. VPS13C mutations are highly diverse, with point mutations being the most common, followed by splice-site variants. Genetic screening is essential for an accurate diagnosis and distinction between different forms of early onset PD. This increases clinicians' understanding of the clinical and genetic characteristics of VPS13C-related Parkinsonism.