A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy

Abstract

Fused in sarcoma (FUS) is the most common causative gene in juvenile-onset amyotrophic lateral sclerosis (jALS). We presented a case of a 15-year-old Chinese girl with atypical and extremely rare bilateral abducens palsy was caused by a heterozygous c.1520del (p.Gly507Alafs*22) pathogenic frameshift mutation in the FUS gene revealed by whole-exome sequencing. This is the first jALS case presenting with bilateral abducens palsy and carrying de novo FUS genetic variant.

Keywords:

• Juvenile amyotrophic lateral sclerosis
• FUS
• de novo mutation
• abducens palsy
• ophthalmoplegia

Acknowledgments

We thank the patient and her mother for their participation in the study. We would also like to thank Dr. Li Yang for her kind assistance during the follow-up of the patient.

Ethical standards

Written informed consent for publication of their details was obtained from the patient’s mother.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This research was supported by the funding of the National Natural Science Foundation of China [Grant No. 81871000].