Neuromyelitis optica spectrum disorder in three generations of a Chinese family

WEI, X., ZHANG, S., YANG, W., LUO, Z., SUN, P., DALTON, Caroline, FACHIM, H.A. and REYNOLDS, G.P. (2019). Neuromyelitis optica spectrum disorder in three generations of a Chinese family. Multiple Sclerosis and Related Disorders, 32, 94-96.

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© 2019 Neuromyelitis optica spectrum disorder is an inflammatory demyelinating disease that is largely sporadic. Familial disease has been reported in one or two generations, although its basis remains unknown. We report here three subjects meeting diagnostic criteria for NMOSD in one family: a father and son, and the maternal aunt of the father. Anticipation, of 27 years, was apparent in transmission from father to son. Aquaporin-4 antibodies were observed in the aunt but not the father and son, nor in other family members. A putative pathogenic mutation in the NECL2 gene was not found in this pedigree. This first report of NMOSD in three generations of one family underlines the heterogeneity of familial NMOSD.

Item Type: Article
Uncontrolled Keywords: Anticipation; Aquaporin-4; Demyelinating disease; Familial transmission; NECL2; Adult; Asian Continental Ancestry Group; Child; Family; Female; Humans; Male; Neuromyelitis Optica; Pedigree; Humans; Neuromyelitis Optica; Pedigree; Family; Adult; Child; Asian Continental Ancestry Group; Female; Male; 1109 Neurosciences
Identification Number:
Page Range: 94-96
SWORD Depositor: Symplectic Elements
Depositing User: Symplectic Elements
Date Deposited: 07 May 2020 16:30
Last Modified: 18 Mar 2021 01:49

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