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July 2016

Linking Genotype to Clinical Phenotype in Multiple Sclerosis: In Search of the Holy Grail

Author Affiliations
  • 1Department of Neurology, Yale School of Medicine, New Haven, Connecticut
  • 2Department of Neurology, Washington University in St Louis, St Louis, Missouri
  • 3Department of Immunobiology, Yale School of Medicine, New Haven, Connecticut
JAMA Neurol. 2016;73(7):777-778. doi:10.1001/jamaneurol.2016.1227

The clinical heterogeneity associated with progression to disability remains one of the mysteries surrounding multiple sclerosis (MS) and can be a source of consternation to patients and physicians alike. Patients who appear neurologically comparable at diagnosis often have widely divergent disease courses: some progress rapidly and require assistance to ambulate within a few years; others experience few relapses and remain almost neurologically intact for decades. Many have hypothesized that the phenotypic variability of MS stems from underlying genetic differences between patients.