Expanding Research on Genetic Differences in Multiple Sclerosis Progression: Daniel Ontaneda, MD, PhD

WATCH TIME: 4 minutes

"That association between T2 lesion volume following closely with thalamic atrophy showed that the generation of the thalamus occurs as a consequence of lesions outside of the thalamus. Interestingly, we don’t see a difference in total brain volume, which suggest that there might be something interesting and vulnerable about the thalamus and how it degenerates."

An inflammatory disease of the central nervous system, multiple sclerosis (MS) most commonly affects young adults, especially women. Throughout the last decade, several small studies failed to identify any robust genetic associations besides the classic associations in the major histocompatibility complex region. In more recent years, genome-wide association studies have uncovered more than 200 implicated genetic loci, which may play a role into the prevalence and severity of the disease.

At the 2023 American Academy of Neurology (AAN) Annual Meeting, held April 22-27, in Boston, Massachusetts, data from a retrospective, cross-sectional study showed distinct differences between Latinx and White patients with MS. Despite being younger (45.4 vs 52.9 years; P <.001) and having a shorter disease duration (17.2 vs 19.5 years; P <.001) than Whites, Latinx patients had more physical disability, cognitive dysfunction, greater lesion burden, and loss of deep and cortical gray matter. Above all, these findings raise questions about management of the disease, and whether racial backgrounds play a role into treatment decisions.

Lead investigator Daniel Ontaneda, MD, PhD, believes that spinal cord involvement may be a partial driver for why this racial group has greater disability. Ontaneda, associate professor of neurology at the Cleveland Clinic Lerner College of Medicine, sat down with NeurologyLive® at the meeting to discuss the need for expanded research in this area, and the questions that still remain. Additionally, he provided his thoughts on the benefits of studying subgroups of patients, and what they can reveal about the overall disease.

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REFERENCE
1. Ontaneda D, Cohen JA, Mowry EM, et al. Latinx with multiple sclerosis have greater disability and loss of deep and cortical gray matter. Presented at: 2023 AAN Annual Meeting; April 22-27; Abstract S31