Pathobiology, Diagnosis, and Current Biomarkers in Neuromyelitis Optica Spectrum Disorders

Neuromyelitis optica spectrum disorder (NMOSD) is characterized by chronic inflammation of the central nervous system (CNS), particularly the optic nerves and spinal cord. Although it displays some clinical features similar to multiple sclerosis (MS), the etiology and treatment are distinct, and therefore accurate diagnosis is essential. Autoantibodies targeting the water channel protein aquaporin-4 (AQP4) and the myelin sheath protein myelin oligodendrocyte glycoprotein are the major antigen-specific serological biomarkers known to date, with destruction of astrocytes as the primary mode of CNS damage in AQP4-positive disease.

This mini-review summarizes the pathobiology, clinical features, and current methods of serological testing used to assess NMOSD and differentiate this disorder from MS. A brief summary of emerging therapies is also presented.

NMOSD can be distinguished from MS through a combination of clinical findings, imaging investigations, and serological analysis. Seronegative cases are particularly difficult to diagnose and can pose a challenge to clinicians. As knowledge deepens, new therapies and biomarkers are expected to improve treatment of this rare debilitating disease.