Multiple Sclerosis

Study Links Genes and Environment to Women’s MS Risk

A new study has found that higher-risk asymptomatic family members of patients with multiple sclerosis (MS) are more likely to have early subclinical manifestations of the disease.

Seeking to investigate the prevalence of brain magnetic resonance imaging (MRI) and subclinical abnormalities among asymptomatic individuals at risk for MS, researchers conducted a study of 100 participants at risk for the disease. They assessed each participant's risk by using a weighted score comprising an individual's genetic burden and environmental exposures. Those in the top and bottom 10% underwent standard and quantitative neurologic examination, including disability status; visual, cognitive, motor, and sensory testing; and qualitative and quantitative neuroimaging with brain MRI and optical coherence tomography.
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The study included 41 participants at higher risk (40 women) and 59 at lower risk (25 women). Given the unequal sex distribution between the 2 groups, the analyses were restricted to women, the authors noted.

Detailed testing with a vibration sensitivity testing device in a subgroup of 47 women showed that higher-risk women exhibited significantly poorer vibration perception in the distal lower extremities. In addition, 5 of 65 women (4 at higher risk and 1 at lower risk) met the primary neuroimaging outcome of having T2-weighted hyperintense brain lesions consistent with the 2010 McDonald MRI criteria for dissemination in space, according to the authors. The researchers wrote that "a subset of participants harbor many different neuroimaging features associated with MS, including perivenous T2-weighted hyperintense lesions and focal leptomeningeal enhancement, consistent with the hypothesis that these individuals are at higher risk of developing clinical symptoms of MS than the general population."

"MS starts well before the first symptom that brings someone to medical attention," said Philip L. De Jager, MD, PhD, an assistant professor at Harvard Medical School and a coauthor of the study, the goal of which he said "is to understand the sequence of events that leads someone to develop MS."

Noting that we do not yet have enough information to inform clinical care, Dr De Jager said that these results "will inform future studies, and we hope to develop clinically relevant strategies in the future."

"For now, we do not recommend a particular course of action. Family members should be reassured that the vast majority of family members will not develop MS," he said.

"One intervention that is not addressed by our study is taking vitamin D. It is not yet clear whether this is helpful in preventing MS. Taking vitamin D is good for bone health," Dr De Jager continued, adding that physicians should discuss taking such supplements with family members of persons with MS.

—Mark McGraw

Reference

Xia Z, Steele SU, Bakshi A, et al. Assessment of early evidence of multiple sclerosis in a prospective study of asymptomatic high-risk family members [published online January 17, 2017]. JAMA Neurol. doi:10.1001/jamaneurol.2016.5056