Characterization of a case of chromosome 21 SOD1 mutation in a patient with familial amyotrophic lateral sclerosis: Discussion on the topic

Abstract

Introduction: Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, Charcot’s disease, and motor neuron disease (MPD), is a progressive, neurodegenerative, and relapsing disease that affects the neurons of the anterior horn of the spinal cord and lateral funiculus. Although the gene defect and pathogenesis of familial ALS is still poorly elucidated, genetic studies point to the involvement of chromosome 21 linkage mutations in the superoxide dismutase 1 (SOD1) gene in approximately 20% of familial ALS cases. Case Report: We report the case of a 52-year-old woman, with no comorbidities. She had been diagnosed with ALS about eight years ago. She began with episodes of paresis in the right lower limb and melting of the right foot. Fasciculations and unmotivated cramps in the right calf complemented the clinical picture. The right side of the body was initially impaired, with later dissemination of paresis and amyotrophy of the trunk and left side. After a genetic test, the SOD1 genetic variant was identified. The exome analysis corroborated the diagnosis of ALS. Conclusion: Superoxide dismutase 1 in the context of ALS represents only a fraction of the cases; however, as several neurodegenerative conditions are caused by abnormal protein folding, the study of a protein disorder with incorrect folding confers elucidation on the molecular basis of other diseases. This is important in terms of management and conduct, since the approach based on this hypothesis may favor the design of drugs that stabilize the SOD1 dimer and prevent misfolding.