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家族性多发性硬化症发病年龄的预测。

Anticipation of age at onset in familial multiple sclerosis.

机构信息

Neurology Department, Multiple Sclerosis Unit, Hospital Universitari de Bellvitge, IDIBELL, Barcelona, Spain.

出版信息

Eur J Neurol. 2010 Apr;17(4):572-5. doi: 10.1111/j.1468-1331.2009.02870.x. Epub 2009 Dec 7.

Abstract

BACKGROUND AND OBJECTIVE

Anticipation of age at onset in the younger generations is a widely known characteristic of many diseases with genetic inheritance. This study was performed to assess whether there is anticipation of age at onset in younger generations of familial multiple sclerosis (MS) in a Spanish population and to compare clinical characteristics of familial and sporadic MS.

METHODS

We studied a cohort of 1110 patients diagnosed with MS and followed-up in our MS Unit. Patients were considered as familial MS if they had in their family at least one relative of first or second degree diagnosed with MS. Otherwise, patients were considered to have sporadic MS. We compared the age at onset between relatives from different generations, and we also compared the age at onset of familial and sporadic MS.

RESULTS

A lower age at onset in the younger generations was found (median 22 years vs. 30 years, P < 0.001) and a significant lower age at onset of the disease in familial MS comparing to sporadic MS (median 25 years vs. 29 years, P = 0.042).

CONCLUSIONS

There is an anticipation of the age at onset of MS in the younger generations of patients with familial MS. There is also a lower age at onset in familial versus sporadic MS.

摘要

背景与目的

在具有遗传因素的许多疾病中,年轻一代发病年龄的预期是一个众所周知的特征。本研究旨在评估西班牙人群中家族性多发性硬化症(MS)年轻一代是否存在发病年龄的提前,并比较家族性和散发性 MS 的临床特征。

方法

我们研究了在我们的 MS 病房接受诊断和随访的 1110 名 MS 患者的队列。如果患者的直系或旁系亲属中至少有一名被诊断为 MS,则将其视为家族性 MS。否则,患者被视为散发性 MS。我们比较了不同代亲属之间的发病年龄,并比较了家族性和散发性 MS 的发病年龄。

结果

发现年轻一代的发病年龄更低(中位数 22 岁 vs. 30 岁,P<0.001),家族性 MS 与散发性 MS 相比,疾病的发病年龄显著更低(中位数 25 岁 vs. 29 岁,P=0.042)。

结论

家族性 MS 年轻一代的 MS 发病年龄提前,家族性 MS 比散发性 MS 的发病年龄更低。

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