Abstract #0667

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

Cristiana Fiscone¹, Magali Jane Rochat², Silvia De Pasqua³, Micaela Mitolo^2,4, Claudio Bianchini¹, Gianfranco Vornetti^1,2, Fiorina Bartiromo², David Neil Manners^2,5, Patrizia Avoni^1,3, Rocco Liguori^1,3, Raffaele Lodi^1,2, and Caterina Tonon^1,2

¹Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy, ²Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, ³Clinica Neurologica Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, ⁴Department of Medicine and Surgery, University of Parma, Parma, Italy, ⁵Department for Life Quality Sciences, University of Bologna, Bologna, Italy

Synopsis

Keywords: Other Neurodegeneration, Quantitative Susceptibility mapping, Myotonic Dystrophy type 1

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.

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