The c.999G>T mutation is a novel mutation of the GARS gene that has not been previously reported. The phenotype of this family is CMT2D, which is first reported in Chinese population.

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Background: This study aimed to explore the differences in the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) in patients with neuromyelitis optica spectrum disorders (NMOSDs) as well as their relationship with the onset of the diseases.Methods: The clinical data, laboratory findings, and imaging data of patients with NMOSD admitted to Perking University Third Hospital from January 2015 to December 2020 were retrospectively analyzed. Routine blood tests of patients performed within one week of the appearance of new clinical symptoms or imaging lesions were collected to calculate the NLR and PLR. The routine blood test of the patients in remission was performed more than 6 months after the patients stopped hormone use. The NLR and PLR of patients were compared with those of 100 healthy subjects undergoing physical examinations.Results: A total of 55 patients with NMOSD were enrolled. 44 patients with NMOSD were followed up. In patients with NMOSD, the white blood cell (WBC) count, absolute neutrophil count, and NLR were significantly higher than those in patients in remission and the controls, while the absolute lymphocyte count was significantly lower than that in patients in remission and the controls. In patients with NMOSD in remission, there were no statistically significant differences in the WBC count, absolute neutrophil count, absolute lymphocyte count, or NLR compared with the controls. The PLR of patients with NMOSD in the attack stage was significantly higher than that of the controls, while the PLR of patients with NMOSD in remission was not significantly different from that of the attack stage and the controls. There were no statistically significant differences between APQ4 (+) and APQ4 (-) in patients with NMOSD at the attack stage in the WBC count, absolute neutrophil count, absolute lymphocyte count, platelet count, NLR or PLR. ROC analysis of NLR and PLR for the diagnosis of inflammatory changes in NMOSD at the attack stage and controls: The ROC curve was plotted using NLR and PLR as dependent variables. In patients with NMOSD, the AUC was 0.806 for NLR and 0.612 for PLR. ROC analysis of NLR and PLR for the diagnosis of inflammatory changes in NMOSD at the attack stage and remission stage. The AUC was 0.728 for NLR and 0.594 for PLR.Conclusion: Patients with NMOSD had significantly higher WBC counts, absolute neutrophil counts and NLRs, and elevated NLRs were correlated with inflammatory activity in NMOSD.

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