Aquaporin-1 Antibodies in Autoimmune Inflammatory Demyelinating Disorders with Predominant Optic Nerve & Spinal Cord Involvement

Erdem TÜZÜN, Eleni KARACHALIOU, Maria PECHLIVANIDOU, Dimitrios TZANETAKOS, Cem İsmail KÜÇÜKALİ, Vuslat YILMAZ, Zerrin KARAASLAN, Elif ŞANLI, Recai TÜRKOĞLU, Murat KÜRTÜNCÜ, Tuncay GÜNDÜZ, Aliki PAPAKONSTANTINOU, Christos STERGIOU, Sotirios GIANNOPOULOS, Georgios TSIVGOULIS, John TZARTOS
2026 Volume: 63 Pages:375-379
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Highlights

• AQP1-Abs are detected in opticospinal demyelinating
disorders.
• AQP1-Abs are identified for the first time in recurrent
optic neuropathy.
• AQP1-Abs occur in MS with optic nerve and spinal cord
attacks.


Abstract

Introduction: Antibodies to the extracellular domain of the astrocytic aquaporin-1 (AQP-1) have been reported in patients with neuromyelitis optica spectrum disorder (NMOSD) and a few multiple sclerosis (MS) patients with predominant spinal cord involvement. Our aim was to identify the prevalence and clinical correlates of antibodies against AQP1 (AQP1-Abs) in a broader spectrum of autoimmune inflammatory demyelinating central nervous system (CNS) disorders.
Methods: Sera from patients with NMOSD (n=30), recurrent inflammatory optic neuropathy (RION) (n=15), relapsing remitting MS (RRMS) (n=69), of which 10 had optic neuritis and/or short myelitis, and healthy controls (n=36) were screened for the presence of AQP1-Abs by ELISA and for antibodies against aquaporin-4 (AQP4-Abs) and myelin oligodendrocyte glycoprotein (MOG)-Abs by cell-based assays.
Results: AQP1-Abs were found in 11% of patients with optic neuritis and/or myelitis [6.7% of NMOSD, 13.3% of RION and 20% of RRMS with optic neuritis and/or short myelitis]. None of the RRMS patients without optic neuritis and/or short myelitis and none of the healthy controls had AQP1-Abs. The two AQP1-Abs-positive RRMS patients, who fulfilled Barkhof criteria by virtue of MRI lesion distribution, had experienced ≥4 short myelitis and/or optic neuritis attacks.
Conclusion: AQP1-Abs are occasionally detected in autoimmune inflammatory demyelinating CNS disorders highlighting optic nerve and spinal cord involvement.
Keywords: Aquaporin-1, neuromyelitis, multiple sclerosis, antibody,