Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants

Conclusion
Most clinical characteristics of familial NMOSD were indistinguishable from sporadic NMOSD except for the worst episodes severity. USP18 with impaired intronic regulatory function contributed to the pathogenesis of NMOSD.

Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Chang, Y., Zhou, L., Zhong, X., Shi, Z., Sun, X., Wang, Y., Li, R., Long, Y., Zhou, H., Quan, C., Kermode, A. G., Yu, Q., Qiu, W. Tags: Neurogenetics Source Type: research