The Comparison of Functional Connectivity in Parkinson's Disease Patients with and without Parkin Gene Mutations.

Introduction: Mapping the functional connectivity of brain regions became appealing in recent research in neurology. Accordingly, a growing body of evidence shows resting-state functional connectivity (rsFC) changes in neurodegenerative disorders including Parkinson's Disease (PD). As characterised by extensive and progressive dopaminergic loss in the substantia nigra, PD emerges with serious motor and non-motor dysfunctions. In the literature, the minority of PD cases have been associated with certain genetic mutations. The aim of this study was to investigate the rsFC in a group of PD patients having Parkin gene mutation.

Method: Twelve PD patients with Parkin mutation (PP-PD), 12 PD patients without Parkin mutation (PN-PD) and 12 healthy controls (HC) were included in the study. All participants underwent a resting-state functional magnetic resonance imaging as well as a neuropsychological assessment and clinical examination.

Results: Results indicated that PP-PD had longer disease duration, a higher rate of dyskinesia and lower scores on complex visual perception tests. The resting state networks showed that all PD (consisting of PP-PD and PN-PD) and PP-PD groups had increased functional connectivity in the frontoparietal network as compared to the HC. In addition, the PP-PD group displayed decreased functional connectivity in the dorsal attention network compared to the PN-PD.

Conclusion: In conclusion, our data suggests that PD with Parkin gene mutation might be emerging with distinct resting state functional connectivity changes in the brain.