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Neuromyelitis optica spectrum disorder in three generations of a Chinese family

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机构： [1]Department of Neurology, Puer People's Hospital, Puer, Yunnan 665000, China [2]Biomolecular Sciences Research Centre, Sheffield Hallam University, Sheffield, U.K

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关键词： Demyelinating disease Aquaporin-4 Familial transmission Anticipation NECL2

摘要：

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.Copyright © 2019. Published by Elsevier B.V.

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出版当年[2019]版：

大类 | 3 区医学

小类 | 3 区临床神经病学

最新[2023]版：

大类 | 3 区医学

小类 | 4 区临床神经病学

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第一作者机构： [1]Department of Neurology, Puer People's Hospital, Puer, Yunnan 665000, China

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