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

Abstract

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.

Keywords:

• Sporadic ALS
• SOD1
• gene testing
• mutation

Acknowledgements

The authors thank the patient and her husband for their collaboration.

Ethics approval

This study was approved by the Ethics Committees of the Third Affiliated Hospital of Sun Yat-sen University.

Informed consent

Informed consent was obtained from the patient in this case.

Disclosure statement

The authors report no conflict of interest.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China under Grant [number 81701167] and the Natural Science Foundation of Guangdong Province under Grant [number 2017A030310360].

Notes on contributors

Zexin Zhan

Zexin Zhan, postgraduate student, Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, has basic clinical and research knowledge of neurology.

Yaqing Shu

Yaqing Shu, Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, has years of clinical experiences of treating neuroimmunologic diseases and has published many related articles.

Yipeng Zhao

Yipeng Zhao, postdoctor, Department of Neurology, the Third Affiliated Hospital of Sun Yat-sen University, specializes in neuroinflammation and demyelinating disease.

Jiewei Peng

Jiewei Peng, Department of Neurology, Zhuhai People’s Hospital, skilled in the diagnosis and treatment of cerebrovascular diseases and neurodegenerative disorders, has professional abilities and qualified competence for clinical work.

Bing Qin

Bing Qin, PhD, Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, professional in the diagnosis and treatment of cerebrovascular diseases and peripheral neuropathies, has published many theses including original articles and case reports in both domestic and foreign journals.