The disease-specific structural pattern in Parkinson's disease and its cortical characteristics associated with gene function: a 7-Tesla MRI study.

Abstract

Brain structure characteristics form the basis on regulating neuroplastic processes by genes, and structural alterations may contribute to the progression of Parkinson's disease (PD) and their divergent clinical manifestations. However, the neural mechanisms underlying the relations between the genetic signatures to structural alterations in PD patients are unclear. This study aimed to integrate alterations in cortical thickness and subcortical nuclei volume (thalamus, hippocampus, and amygdala) in PD, and to explore global cortical thickness differences associated with gene function. 7-Tesla magnetic resonance imaging scans were obtained for 98 patients with PD and 74 healthy controls (HC). Cortical thickness and subcortical nuclei volume were extracted based on FreeSurfer and were analyzed using general linear model to find significant differences between two groups. Regression model was used for cross-sectional the impact of structural alterations on motor signs as well as non-motor symptoms. Gene-imaging association analysis was used to characterize its gene signatures. Compared with HC, PD patients exhibited the disease-specific structural pattern, characterized by reduced cortical thickness in the right pars triangularis and altered volumes of specific nuclei subfields. Moreover, the Cornu Ammonis 1 head volume was significantly correlated with rigidity scores. Using human brain gene expression data, genes identified in this study were enriched for ribosome and synaptic organization and explain significant variation in global cortical thickness differences. Taken together, these findings may contribute to a better understanding of neural mechanisms in PD and the functional roles of genes that influence brain structure.