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Updated: Jun 11, 2026

Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
Published on: August 21, 2017
Reversible area postrema syndrome in a patient with GJB1 mutation mimicking neuromyelitis optica spectrum disorder
Po-Chia Cheng1, Yuan-Ting Sun2
1Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan.
Background:
Area postrema syndrome (APS) is a core feature of neuromyelitis optica spectrum disorder (NMOSD). Charcot-Marie-Tooth disease type 1X (CMT1X), caused by gap junction protein beta-1 (GJB1) mutations, can rarely involve the central nervous system (CNS).
Objectives:
To report a case of CMT1X presenting with APS mimicking NMOSD.
Methods:
Clinical, electrophysiological, radiological, and genetic evaluations were performed.
Results:
A 43-year-old woman experienced intractable hiccups, nausea, and a dorsal medullary lesion. Genetic testing revealed a pathogenic GJB1 p.Arg22Gln variant. The lesion resolved, and she remained relapse-free without maintenance immunotherapy.
Conclusion:
GJB1-related disorders should be considered in patients with episodic CNS symptoms, particularly when accompanied by features of hereditary neuropathy, to avoid misdiagnosis.
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