JNNP: Chinese clinical and genetic analysis of familial optic neuromyelitis lineage disorders associated with ubiquitin-specific peptidase USP18 gene variants

Optic neuromyelitis lineage disorder (NMOSD) is an autoimmune disease of the central nervous system characterized by recurrent episodes of optic neuritis (ON), myelitis, and specific brain area lesions whose pathogenesis is related

The familial clustering and high prevalence observed in Asians suggest that genes have a potential impact on

In this study, 10 Chinese households

Through a questionnaire survey of four medical centers from 2016 to 2020, 10 households with NMOSD clusters were identified

Research routes

The results showed that the familial incidence of Chinese was 0.

Structure and function of single nucleotide polymorphisms (SNP) variants in USP18

The family incidence of Chinese differs from other populations, including Asians, Latinos, whites, and Africans, suggesting that national ancestry plays a role

In previous studies, SNP variants in the intron and promoter regions of the USP18 gene were significantly associated with multiple sclerosis (MS), and patients with high recurrence rates and neurological dysfunction scores had lower

Most clinical features of familial NMOSDs are not significantly different from sporadic NMOSDs, except for