Elucidating distinct clinico-radiologic signatures in the borderland between neuromyelitis optica and multiple sclerosis

Journal article

Background Separating antibody-negative neuromyelitis optica spectrum disorders (NMOSD) from multiple sclerosis (MS) in borderline cases is extremely challenging due to lack of biomarkers. Elucidating different pathologies within the likely heterogenous antibody-negative NMOSD/MS overlap syndrome is, therefore, a major unmet need which would help avoid disability from inappropriate treatment. Objective In this study we aimed to identify distinct subgroups within the antibody-negative NMOSD/MS overlap syndrome. Methods Twenty-five relapsing antibody-negative patients with NMOSD features underwent a prospective brain and spinal cord MRI. Subgroups were identified by an unsupervised algorithm based on pre-selected NMOSD/MS discriminators. Results Four subgroups were identified. Patients from Group 1 termed "MS-like" (n = 6) often had central vein sign and cortical lesions (83% and 67%, respectively). All patients from Group 2 ("spinal MS-like", 8) had short-segment myelitis and no MS-like brain lesions. Group 3 ("classic NMO-like", 6) had high percentage of bilateral optic neuritis and longitudinally extensive transverse myelitis (LETM, 80% and 60%, respectively) and normal brain appearance (100%). Group 4 ("NMO-like with brain involvement", 5) typically had a history of NMOSD-like brain lesions and LETM. When compared with other groups, Group 4 had significantly decreased fractional anisotropy in non-lesioned tracts (0.46 vs. 0.49, p = 0.003) and decreased thalamus volume (0.84 vs. 0.98, p = 0.04). Conclusions NMOSD/MS cohort contains distinct subgroups likely corresponding to different pathologies and requiring tailored treatment. We propose that non-conventional MRI might help optimise diagnosis in these challenging patients

Authors: Juryńczyk, M; Klimiec-Moskal, E; Kong, Y; Hurley, S; Messina, S

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Journal of Neurology
• Volume: 269
• Issue: 1
• Pages: 269-279
• Publication date: 2021-05-27
• DOI: 10.1007/s00415-021-10619-1
• EISSN: 1432-1459
• ISSN: 0340-5354
• Language: English
• Keywords: Optic neuritis; Radiology; Spinal cord; Medicine; Myelitis; Psychiatry; Neurology; Clinically isolated syndrome; Internal medicine; Transverse myelitis; Pathology; Multiple sclerosis; Neuroradiology; Neuromyelitis optica; Immunology; Expanded Disability Status Scale