AUTHOR=Yilihamu Mubalake , Liu Xiaolu , Liu Xiaoxuan , Chen Yong , Fan Dongsheng 

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

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.984866

DOI=10.3389/fneur.2022.984866

ISSN=1664-2295

ABSTRACT=<p>Heterozygous autosomal-dominant <italic>FIG4</italic> mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the <italic>FIG4</italic> 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 <italic>FIG4</italic> mutations.</p>