Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Most patients die of respiratory failure within 3 years of onset. In this study, we reported a female Chinese ALS patient with SOD1 c.404G > C, p.S135T mutation. The missense mutation was identified as “Likely pathogenic” according to the ACMG/AMP 2015 guideline. The patient presented with weakness and atrophy of lower limbs with slow progression. We reviewed two other reports on patients with the same SOD1 p.S135T mutation. These patients had lower extremity onset, negative Babinski sign, slow disease progression, and prolonged survival. This report indicates that specific phenotype-genotype correlations of SOD1 p.S135T mutation in ALS.
Acknowledgments
The authors thank the patient and his family for their cooperation in this study. We thank professor Xusheng Huang and professor Fang Cui whoprovided us with the recent clinical information on another ALS patient carrying the same SOD1 p.S135T mutation.
Declaration of interest
The authors have no conflicts of interest to declare.