FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive weakness and muscular atrophy in the upper or lower limbs, ultimately leading to paralysis and death. Genetic studies have demonstrated that mutation in the gene encoding fused in sarcoma (FUS) is an uncommon cause of ALS. Here, we report a case of a 31-year-old Asian man with ALS with rare onset of dropped-head syndrome. Symptoms, including asymmetric proximal weakness of the upper limbs, hoarseness, dysphagia, and nocturnal dyspnea, emerged over a period of 5 months. After genetic testing, the patient was confirmed to harbor a novel pathogenic heterozygous mutation, c.1558C > T (p.R520C). We summarize the genotype-clinical phenotype relationships in 42 Asian patients with ALS-FUS.

Keywords:

• Amyotrophic lateral sclerosis
• fused in sarcoma
• genotype-phenotype correlation

Acknowledgments

The authors thank the patients’ family members for their cooperation in providing the medical data and photographs necessary for this publication.

Ethics approval

The study was conducted according to the guidelines of the Declaration of Helsinki and approved by the Ethics Committee of The First Hospital of Wuhan (2021/34; approved 5 April 2021).

Informed consent

Informed consent was obtained from all subjects involved in the study.

Declaration of interest

The authors declare no conflict of interest.

Additional information

Funding

This study was supported by funds from Wuhan Municipal Health Commission [number WZ21M01 and WX20C35].