First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt:early onset and high consanguinity  

作　　者：Nabila Hamdi Kathrin Mueller Amr Hamza Radwa Soliman Enass Onbool Kareem Omran Omnia Ocab Axel Freischmidt Reiner Siebert Albert Ludolph Nagia Fahmy 

机构地区：[1]Molecular Pathology Unit,The German University in Cairo,New Cairo City,11835,Egypt [2]Institute of Human Genetics,Ulm University and Ulm University Medical Center,Ulm,89081,Germany [3]Neuromuscular Unit,Faculty of Medicine,Ain Shams University,Cairo,11591,Egypt [4]Department of Neurology,Ulm University,Ulm,89081,Germany [5]German Center for Neurodegenerative Diseases(DZNE),Ulm Site,Ulm,89081,Germany

出　　处：《Frontiers of Medicine》2024年第6期1115-1118,共4页医学前沿(英文版)

摘　　要：Dear Editor,Significant progress has been made in understanding the genetics of amyotrophic lateral sclerosis(ALS),particularly in European populations.However,a substantial proportion of familial ALS(fALS)cases remaingenetically unexplained.Emerging evidence suggests that ALS phenotypes and genetic risk factors may vary across ethnicities and regions.Investigating the genetic architecture of ALS in understudied populations could uncover new pathwaysand mechanisms contributing to motor neuron degeneration.

关 键 词：amyotrophic FAMILIAL DEGENERATION 

分 类 号：R744.8[医药卫生—神经病学与精神病学]