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Handb Clin Neurol. 2018;148:723-730. doi: 10.1016/B978-0-444-64076-5.00046-6.

Multiple sclerosis.

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Department of Neurology, Yale School of Medicine, New Haven, CT, United States. Electronic address:
Department of Neurology, Yale School of Medicine, New Haven, CT, United States.


Multiple sclerosis is a potentially progressive, autoimmune neurologic disorder of the central nervous system, resulting from an autoimmune attack on central nervous system white matter. It is a leading cause of neurologic symptoms in young adults, with no known cure. Emerging disease-modifying therapies aim to control symptoms, with increasingly sophisticated immune function modulation. Though several environmental exposures increase the risk of developing the disease, a large fraction of overall risk is heritable and can be attributed to hundreds of common genetic variants influencing gene regulation in specific immune subsets. Here, we review the history of the disease, the realization that risk is heritable, and the recent revelation of hundreds of genetic variants driving this risk by international consortia studying tens of thousands of patients. Finally, we discuss how these results are revealing the specific pathobiology of multiple sclerosis and how this knowledge is transforming drug discovery.


autoimmune disease; complex disease genetics; gene regulation; genomewide association study; heritability; multiple sclerosis

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