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.
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.