Abnormal Degree Centrality and Functional Connectivity Associated with Cognitive Impairment in Myotonic Dystrophy Type 1

Objectives: The present study aimed to examine alterations in voxel-based degree centrality (DC) and functional connectivity (FC), and their relationship with cognitive impairments in individuals with myotonic dystrophy type 1 (DM1). Methods: Eighteen DM1 patients and eighteen healthy controls (HCs) participated in the study and were assessed using a comprehensive neuropsychological battery. Voxel-wise DC analysis was conducted to identify abnormal neural hubs in DM1 patients. Additionally, FC method was used to assess abnormalities in functional connections among these aberrant hubs. Correlational analyses were also used to identify and explore the relationship between altered DC and FC values and cognitive performance in DM1 patients. Results: DM1 patients exhibited reduced DC in the bilateral Rolandic operculum, left inferior frontal gyrus (triangular part), right angular gyrus, right median cingulate and paracingulate gyri, and right middle temporal gyrus. Conversely, increased DC was observed in the right fusiform gyrus, right hippocampus and left inferior temporal gyrus. FC analysis revealed that altered connectivity predominantly occurred between the right middle temporal gyrus, right angular gyrus and left inferior frontal gyrus (triangular part). Notably, the DCvaluein the right median cingulate was positively correlated withthe Trail Making Test Part A scores in DM1 patients (r = 0.616, p = 0.005, adjusted p <0.05). No significant correlations were discovered between FC values and neurocognitive performances. Conclusion: The study demonstrated that abnormalities in degree centrality and functional connectivity may become potential neuroimaging biomarkers for cognitive decline in DM1 patients.