145
Views
0
CrossRef citations to date
0
Altmetric
Short Reports

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

, ORCID Icon, , &
Pages 143-145 | Received 10 Feb 2021, Accepted 29 Mar 2021, Published online: 16 Apr 2021
 

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.

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].

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 478.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.