Myotonic Dystrophy type 1: susceptibility in Thalamus and Brainstem as biomarker of clinical impairment

Motivation: QSM is a valuable tool for investigating neurodegenerative conditions, including DM1, a genetic multisystem disorder affecting the central nervous system. Goal(s): The objective of this research is to identify biomarkers of clinical impairment by exploring magnetic susceptibility in sub-cortical areas of DM1 brains. Approach: We developed an automated pipeline for segmenting various structures and their sub-units. DM1 susceptibility values were compared to healthy controls and correlated with clinical and laboratory data. Results: Thalamus and brainstem were identified as key structures, showing increased iron concentration and correlation with disability and polysomnography scores, contributing to a comprehensive understanding of DM1 and its symptomathology. Impact: Examining iron accumulation in sub-cortical structures through QSM contributes to a complete understanding of DM1 as a neurodegenerative disorder. Thalamus and brainstem, crucial in autonomic functions, exhibit alterations and correlations with clinical measurements, suggesting central origins of DM1 symptomatology.