Cortical thickness and white matter integrity are associated with CTG expansion size in myotonic dystrophy type I

Purpose: Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size. Materials and Methods: Cortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging. The patients’ intelligence quotient (IQ) and CTG repeat size were measured in each individual. Results: Cortical thickness was significantly reduced in the frontal, temporal, and occipital cortices, while tract-based spatial statistics showed decreased diffusion metrics in widespread areas, including the bilateral orbitofrontal, anterior frontal, insular, external capsule, and occipital cortices in DM1 patients, compared to controls. Additionally, thickness was negatively correlated with the number of CTG repeats in those areas. White matter integrity was negatively correlated with CTG repeats in the left ento-rhinal, anterior corona radiata, orbitofrontal, and lateral occipital areas. No statistically significant correlation was found between IQ scores and the size of CTG repeats. Conclusion: Our results suggest that DM1 is associated with wide distributions of network changes in both gray and white matter. Some of areas related to cognition showed significant correlations with CTG repeats.