Amyotrophic lateral sclerosis caused by a rare mutation in the SOD1 gene at p. H44R locus： a case report and literature review / 中风与神经疾病杂志

ABSTRACT

@#Objective This study aims to explore the clinical characteristics of common mutation sites in the SOD1 gene and provide assistance for the early identification, diagnosis, and course evaluation of amyotrophic lateral sclerosis (ALS). Methods The clinical data and genetic testing results of a patient with ALS caused by the c.131A>G:p.H44R mutation in the second exon of the SOD1 gene were retrospectively analyzed and discussed in conjunction with the literature. Results The patient presented with pain and weakness in the right lower limb accompanied by muscle atrophy. No positive signs were observed in the sensory system. The electromyogram revealed subclinical neurogenic changes in the unaffected limbs. Whole-exome sequencing identified a rare mutation in exon c.131A>G:p.H44R of the SOD1 gene. Conclusion Early diagnosis of ALS is challenging, and the clinical manifestations vary depending on the gene site mutations. Genetic testing can assist in diagnosis and has significant identification value in the early stages of the disease.