Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation

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.

Keywords:

• Amyotrophic lateral sclerosis
• SOD1
• mutation
• slow progression

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.

Additional information

Funding

This study is supported by the Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences (CIFMS) [Grant number: 2016-I2M-1-004], the National Key Research and Development Program of China [grant nos. 2016YFC0905100 and 2016YFC0905103].