Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis

Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with FIG4 mutations.

Automated summary

This study reports a variant of the FIG4 gene associated with amyotrophic lateral sclerosis (ALS), which has not been previously reported in ALS or primary lateral sclerosis (PLS) patients. It provides further information on the genotypes and phenotypes of patients with FIG4 mutations.