Improving MS Diagnosis Through Biology and Early Detection: Wallace Brownlee, MBChB, PhD, FRACP

WATCH TIME: 5 minutes

“Moving toward a biological definition, as we’re seeing in other areas of neurology, represents a real step forward.”

The 2017 McDonald criteria established separate diagnostic pathways for relapsing-remitting MS (RRMS) and primary progressive MS (PPMS) based on historical distinctions rather than biological differences. A recent study presented by lead author Wallace Brownlee, MBChB, PhD, FRACP, at the 2024 European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress, held September 18-20, in Copenhagen, Denmark, demonstrated that the 2017 McDonald RRMS criteria were highly accurate for diagnosing PPMS. The study also explored potential updates, such as including the optic nerve as a fifth topographical region and recognizing multiple spinal cord lesions in the dissemination in space (DIS) criteria, showing feasibility for these revisions among patients with PPMS.

Researchers assessed the 2017 McDonald criteria and modified DIS criteria in 322 patients suspected of PPMS across 5 MAGNIMS centers. Among them, 282 were diagnosed with PPMS using the 2017 criteria, while 40 had other conditions. The 2017 McDonald RRMS criteria demonstrated high sensitivity (92.9%), specificity (95%), and accuracy (93.2%) for diagnosing PPMS. Similarly, the modified DIS criteria, incorporating the optic nerve (sensitivity, 93.3%; specificity, 95%; accuracy, 93.5%) or at least 2 spinal cord lesions (sensitivity, 95.4%; specificity, 95%; accuracy, 95.3%), also showed strong diagnostic performance when combined with positive cerebrospinal fluid findings or MRI evidence of dissemination in time. These results supported a unified, biologically informed diagnostic framework for MS.

Building on these findings, Brownlee, a consultant neurologist at Queen's Square MS Center in London, provided additional insights during an interview with NeurologyLive^® at the Congress. Brownlee highlighted the challenges clinicians face in navigating the increasingly complex MS diagnostic criteria while striving for accurate and timely diagnoses. He discussed the need for practical strategies to incorporate advanced imaging techniques, such as susceptibility-weighted imaging, into routine clinical practice, despite logistical and resource constraints. Brownlee also emphasized the transformative potential of early detection and preclinical studies in at-risk populations, including asymptomatic first-degree relatives of MS patients, to improve long-term outcomes through earlier intervention and prevention strategies.

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REFERENCES
1. Brownlee W, Vidal-Jordana A, Shatila M, et al. Towards a unified set of diagnostic criteria for multiple sclerosis. Presented at ECTRIMS Congress; September 18-20, 2024; Copenhagen, Denmark. Scientific Session 1: New diagnostic criteria. Abstract 1463.