Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Although dyskinesia the most prominent clinical manifestation ALS, with an in‐depth understanding pathogenesis detection, more ALS patients are found to have nonmotor symptoms, such as sensory impairment. Genetic testing technology has developed rapidly in recent years. New genes been proven be involved ALS. However, according existing research evidence, no literature reported that leucine‐rich repeats sterility α mutations motif 1 ( LRSAM1 ) receptor expression accessory protein REEP1 ). The mutation sites gene not reported, simultaneous two reported. In largest human frequency database gnomad, currently defined new heterozygous variants unclear significance. Therefore, this article reports data case further deepen clinicians' disease, may provide evidence for study genotype–phenotype .