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

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Dear Editor,rnAmyotrophic 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].
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