Abstract #0082

Disrupted structural connectome in Duchenne’s muscular dystrophy: Classifying and subtyping based on Dp140 dystrophin isoform

Apurva Shah¹, Apoorva Safai¹, Veeramani Preethish Kumar², Atchayaram Nalini², Jitender Saini³, and Madhura Ingalhalikar¹

¹Symbiosis Center for Medical Image Analysis, Symbiosis International University, Pune, India, ²Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India, ³Department of Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India

Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disorder, characterized by muscle weakness and cognitive deficits due to mutation in DMD gene. Dp140+ and Dp140- are DMD subtypes derived based on promoter site of isoform Dp140 in DMD gene. Our work investigated the structural connectivity in DMD and its sub-types and demonstrated widespread and global reduction in connectivity across whole brain in DMD compared to controls. Higher dysconnectivity was observed in Dp140- subtype especially in cerebellar and frontal regions compared to Dp140+ implying that the promotor site of Dp140 isoform plays a crucial role in terms of impaired information processing.

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