一般人群中的腓骨肌萎缩症的遗传流行病学。

Genetic epidemiology of Charcot-Marie-Tooth in the general population.

机构信息

Faculty Division Akershus University Hospital, University of Oslo, Norway.

出版信息

Eur J Neurol. 2011 Jan;18(1):39-48. doi: 10.1111/j.1468-1331.2010.03037.x.

DOI:10.1111/j.1468-1331.2010.03037.x

PMID:20482598

Abstract

BACKGROUND AND PURPOSE

the frequency of different Charcot-Marie-Tooth (CMT) genotypes has been estimated in clinic populations, but prevalence data from the general population are lacking.

METHODS

our population-based genetic epidemiological survey included persons with CMT residing in eastern Akershus County, Norway. The participants were interviewed and examined by one geneticist/neurologist and classified clinically, neurophysiologically and genetically.

RESULTS

two hundred and forty-five persons from 116 families had CMT. This corresponds to 1 per 1214 persons (95% CI 1062-1366) have CMT in the general population. CMT1 (motor conduction velocity (MCV) <38 m/s), CMT2 (MCV >38 m/s) and CMT intermediate (MCV 25-45 m/s) were found in 48.2%, 49.4% and 2.4% of the families. A total of 27.2% of the families and 28.6% of the affected had a mutation in the investigated CMT genes. The prevalence of the peripheral myelin protein 22 (PMP22) duplication and point mutation in the connexin32 (Cx32), myelin protein zero (MPZ) and mitofusin2 (MFN2) genes was found in 13.6%, 6.2%, 1.2%, 6.2% of the families, and in 19.6%, 4.8%, 1.1%, 3.2% of the affected, respectively. None of the families had point mutations in the early growth response 2 (EGR2), PMP22 or small integral membrane protein of lysosome/late endosome (SIMPLE) genes.

CONCLUSIONS

CMT is the most common inherited neuropathy. At present, 43 CMT genes are known, and an examination of all known genes would probably only identify mutations in approximately 50% of those with CMT. Thus, it is probable that at least 30-50 CMT genes are yet to be identified.

摘要

背景与目的

不同类型的腓骨肌萎缩症（CMT）的频率已在临床人群中进行了评估，但一般人群的患病率数据尚缺乏。

方法

我们的基于人群的遗传流行病学调查包括居住在挪威阿克什胡斯郡东部的CMT 患者。研究对象由一位遗传学家/神经科医生进行访谈和检查，并进行临床、神经生理学和遗传学分类。

结果

116 个家系的 245 名患者患有 CMT。这相当于普通人群中每 1214 人（95%CI 1062-1366）中就有 1 人患有 CMT。CMT1（运动传导速度（MCV）<38 m/s）、CMT2（MCV>38 m/s）和 CMT 中间型（MCV 25-45 m/s）在 48.2%、49.4%和 2.4%的家系中发现。共有 27.2%的家系和 28.6%的患者在研究的 CMT 基因中存在突变。周围髓鞘蛋白 22（PMP22）重复和连接蛋白 32（Cx32）、髓鞘蛋白零（MPZ）和线粒体融合蛋白 2（MFN2）基因突变的患病率在 13.6%、6.2%、1.2%、6.2%的家系和 19.6%、4.8%、1.1%、3.2%的患者中发现。没有家系存在早期生长反应 2（EGR2）、PMP22 或溶酶体/晚期内体小整合膜蛋白（SIMPLE）基因突变。