Clinical phenotype and gene mutation analysis on one case of familial amyotrophic lateral sclerosis complicated with gastrocnemius edema caused by SOD1A4V

Abstract

Objective To retrospectively analyze the clinical phenotype and gene mutation of one case of familial amyotrophic lateral sclerosis (fALS) caused by SOD1A4V. Methods and Results The patient was 34-year-old male, presenting with lower motor neuron damage of limbs, dyspnea and bilateral gastrocnemius hypertrophy. MRI indicated obvious edema of bilateral gastrocnemius muscles, and gastrocnemius muscle pathology indicated neurogenic damage. Next-generation sequencing showed the patient had a heterozygous mutation of c.14C > T (p.Ala5Val) of SOD1 gene. The patient was diagnosed as fALS, and the family was diagnosed as fALS pedigree. The patient died 14 months after onset. Conclusions Familial amyotrophic lateral sclerosis caused by SOD1A4V gene mutation is rarely reported in China. This disease occurs in youth and progresses rapidly. It is necessary to simultaneously detect the gene mutation of patients and their immediate relatives, which is helpful for early and definite diagnosis of other family members. DOI: 10.3969/j.issn.1672-6731.2019.06.009

Keywords

• Amyotrophic lateral sclerosis
• Muscle, skeletal
• Superoxide dismutase-1
• Genes
• Mutation
• Pedigree