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The Role of Whole Genome Gene Expression Studies in Deciphering Cortical Grey Matter Pathology in Multiple Sclerosis

Lukas Simon Enz, Stephanie Jaggi, Paula Huemer, Nicole Schaeren-Wiemers

The chronic cortical pathology of Multiple Sclerosis (MS) composes of demyelination and neurodegeneration and has been studied since the early pathoanatomical descriptions of MS. Due to technical difficulties in detecting the extent of cortical damage accumulating during the disease process; it has only been recognized as a major aspect of MS pathology 20 years ago. Whole genome gene expression studies from cortical human brain tissue have been an invaluable tool to gain novel insights into the molecular pathology of the so-called normal-appearing cortical grey matter and demyelinated grey matter lesions and have aided in discovering new pathomechanisms. These studies however are notoriously difficult to perform and interpret, due to the heterogeneity of the disease itself and the complex architecture of the human brain cortex.