A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2020,（2）
• 页码范围: 174-178
• 页数: 5页
• 语种: 英文

摘要

Dear Editor, Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease that prominently affects both upper and lower motor neurons.The prevalence of ALS has been estimated at 2.6-3.0 per 100,000 in Europe,5.2 per 100,000 in the USA,and 1.9-9.9 per 100,000 in Asia [1-3].ALS is classified as sporadic (sALS) or familial (fALS),but only 5％-10％ of cases are identified as familial [4,5].In 1993,the first mutation associated with ALS was found in the superoxide dismutase 1 (SOD1) gene [6].Since then,＞ 30 genes with such mutations have been reported,of which four genes SOD1,FUS (FUS RNA binding protein),TARDBP (TAR DNA binding protein),and C9orf72 (C9orf72-SMCR8 complex subunit),account for 60％-70％ of fALS cases and 10％ of sALS cases [5].