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家族性多发性硬化症与其他自身免疫性疾病的关联。

Familial multiple sclerosis and association with other autoimmune diseases.

机构信息

Department of Neurology Institute of Neurosciences Hospital Clínico San Carlos Madrid Spain.

Neurobiology Laboratory Institute of Neurosciences Hospital Clínico San Carlos Madrid Spain.

出版信息

Brain Behav. 2017 Dec 19;8(1):e00899. doi: 10.1002/brb3.899. eCollection 2018 Jan.

Abstract

OBJECTIVES

Autoimmune diseases (AID) follow a complex, probably polygenic, pattern of inheritance and often cluster in families of patients with multiple sclerosis (MS). Our objective was to analyze family patterns and characteristics in families including more than one patient with MS.

MATERIALS AND METHODS

We analyzed personal and family history of neurological, systemic, and autoimmune diseases in 84 MS patients from 40 different families. Families were classified in two groups: families with cases of MS in at least two different generations (15 families) and families in which cases of MS belonged to only one generation (25 families).

RESULTS

The two previously established groups presented different clinical patterns and frequency of association with another AID. In one group, the second generation displayed a higher annual relapse rate than the first generation, higher frequency of progressive forms of MS, and more patients with another AID in addition to MS. Relapsing-remitting forms of MS (RRMS) were more frequent in the other group.

CONCLUSIONS

Families that include more than one MS patient may show two distinct patterns. This finding seems important for the compression and analysis of genetic information on MS.

摘要

目的

自身免疫性疾病(AID)遵循复杂的、可能是多基因遗传模式,并且常常在多发性硬化症(MS)患者的家族中聚集。我们的目的是分析包括多个 MS 患者的家族中的家族模式和特征。

材料和方法

我们分析了 84 名来自 40 个不同家族的 MS 患者的个人和家族神经、系统和自身免疫病史。家族分为两组:至少有两代 MS 病例的家族(15 个家族)和 MS 病例仅属于一代的家族(25 个家族)。

结果

这两组先前确定的组表现出不同的临床模式和与另一种 AID 的关联频率。在一组中,第二代的年复发率高于第一代,更频繁地出现进行性 MS 形式,并且除 MS 之外还有更多的其他自身免疫性疾病患者。在另一组中,更常见的是缓解复发型 MS(RRMS)。

结论

包括多个 MS 患者的家族可能表现出两种截然不同的模式。这一发现似乎对 MS 遗传信息的压缩和分析很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc5e/5853641/d085c8ba993b/BRB3-8-e00899-g001.jpg

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