A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression.

Sporadic amyotrophic lateral sclerosis (ALS; SALS) accounts for more than 90% of all cases of the fatal neurodegenerative disease ALS. Cu/Zn superoxide dismutase (SOD1) gene mutations are the confirmed causes of adult-onset ALS. Here, we report a novel nonsense mutation, c.417_418insT (p.Asn140Ter), in exon 5 of the SOD1 gene in a Chinese adult female patient with SALS who showed rapid disease progression. This novel mutation will help deepen our understanding of the genetic pathogenesis of ALS.