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视神经脊髓炎与多发性硬化症的家族聚集性:指向共同风险的线索?

Familial clustering of neuromyelitis optica and multiple sclerosis: clues pointing towards shared risks?

作者信息

Bonnan Mickael, Berthelot Emeline, Cabre Philippe

机构信息

Service de Neurologie, Centre Hospitalier de Pau, 4 Bd Hauterive, 64000 Pau, France.

Service de Neurologie, Hôpital Zobda Quitman, 97261 Fort-de-France, French West Indies.

出版信息

Mult Scler Relat Disord. 2020 Sep;44:102371. doi: 10.1016/j.msard.2020.102371. Epub 2020 Jul 4.

Abstract

We examine the prevalence of the familial association of concordant NMOSD/NMOSD and discordant NMOSD/MS cases among a large NMOSD cohort. Familial association was examined in a monocenter cohort of 119 NMOSD patients and 45 patients at high risk of NMOSD from French West Indies. Data mining gathered 31 multiplex families. Twin monozygotic sisters concordant for NMOSD/NMOSD, and four discordant NMOSD/MS families, accounted respectively for 0.8% and 3.4% of the NMOSD cohort. Familial clustering was more frequent than random association. In discordant NMOSD/MS families, the NMOSD patient was always from the parental generation. The non-random successive familial cases of NMOSD and MS suggest a change of risk factor over generations.

摘要

我们研究了一个大型视神经脊髓炎谱系障碍(NMOSD)队列中,NMOSD/NMOSD一致性病例和NMOSD/多发性硬化症(MS)不一致性病例的家族关联患病率。在一个来自法属西印度群岛的119例NMOSD患者和45例NMOSD高风险患者的单中心队列中,对家族关联进行了研究。数据挖掘收集了31个多成员家庭。NMOSD/NMOSD一致的同卵双胞胎姐妹,以及四个NMOSD/MS不一致的家庭,分别占NMOSD队列的0.8%和3.4%。家族聚集比随机关联更频繁。在NMOSD/MS不一致的家庭中,NMOSD患者总是来自亲代一代。NMOSD和MS的非随机连续家族病例表明,几代人的风险因素发生了变化。

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