Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A.

Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A. Intern Med. 2020 Dec 22;: Authors: Hamada Y, Takahashi K, Kanbayashi T, Hatanaka Y, Kobayashi S, Sonoo M Abstract Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy, and its involvement in the central nervous system (CNS) is very rare. We herein report a 51-year-old woman with CMT1A who suffered from recurrent optic neuritis and myelopathy. Under the diagnosis of anti-aquaporin-4 antibody positive neuromyelitis optica spectrum disorder (NMOSD), we treated her successfully with corticosteroids. This is the first report of CMT1A complicated with AQP4-positive NMOSD. Although the coexistence of the two disorders may simply be a coincidence, we speculated that immune cross-reaction between overexpressed peripheral PMP22 protein and CNS myelin may have caused concomitant CMT1A and NMOSD. PMID: 33361678 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research