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埃及基于人群的运动神经元疾病登记系统:我们目前的情况如何?

Motor Neuron Disease Population-Based Registry in Egypt: Where Do We Stand?

作者信息

Hamdi Nabila, Ocab Omnia, Soliman Radwa, Ludolph Albert, Anwar Wagida, Logroscino Giancarlo, Fahmy Nagia

机构信息

Molecular Pathology Unit, The German University in Cairo, Cairo, Egypt.

Neuromuscular Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

出版信息

Neuroepidemiology. 2025;59(3):277-289. doi: 10.1159/000539468. Epub 2024 Jun 13.

DOI:10.1159/000539468
PMID:38870925
Abstract

BACKGROUND

There is a growing body of evidence indicating that the worldwide distribution of amyotrophic lateral sclerosis (ALS) is far from uniform. This is evident through variations in the epidemiology, genetics, and phenotypical characteristics of ALS and other motor neuron diseases (MND) across different regions. However, comprehensive ALS epidemiological studies are still lacking in many parts of the world, especially in Africa. Therefore, we propose the establishment of a population-based register for ALS/MND in Egypt, an important part of Africa with a population of more than 100 millions of people.

SUMMARY

Given Egypt's distinctive social and demographic characteristics, it is highly recommended to employ specific, recently developed epidemiological techniques for assessing the prevalence and incidence of these diseases within the country. By utilizing these methods, we can gather invaluable data that will contribute to a deeper understanding of ALS and enable us to effectively address its impact on the population of Egypt.

KEY MESSAGES

Our goal with this pioneering ALS/MND population-based register in Egypt is to define the burden of ALS in this part of Africa and to increase the chances for this consanguineous population to get access to modern individualized genetic therapies. Additionally, we aspire to uncover potential environmental factors and gene-environment interactions that contribute to the development of ALS. This knowledge of MND individual and group risk in Egypt will not only open doors for interventions but also provide opportunities for future research and discovery.

摘要

背景

越来越多的证据表明,肌萎缩侧索硬化症(ALS)在全球的分布极不均衡。这一点从不同地区ALS及其他运动神经元疾病(MND)的流行病学、遗传学和表型特征的差异中可见一斑。然而,世界上许多地区,尤其是非洲,仍缺乏全面的ALS流行病学研究。因此,我们提议在埃及建立一个基于人群的ALS/MND登记系统,埃及是非洲的重要组成部分,人口超过1亿。

总结

鉴于埃及独特的社会和人口特征,强烈建议采用近期开发的特定流行病学技术来评估该国这些疾病的患病率和发病率。通过运用这些方法,我们能够收集到宝贵的数据,有助于更深入地了解ALS,并使我们能够有效应对其对埃及人口的影响。

关键信息

我们在埃及建立这个开创性的基于人群的ALS/MND登记系统的目标是确定非洲这一地区ALS的负担,并增加这个近亲通婚人群获得现代个性化基因治疗的机会。此外,我们希望发现导致ALS发病的潜在环境因素以及基因-环境相互作用。了解埃及MND个体和群体的风险不仅将为干预措施打开大门,还将为未来的研究和发现提供机会。

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