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

Mubalake Yilihamu; Xiaolu Liu; Xiaoxuan Liu; Yong Chen; Dongsheng Fan

doi:10.3389/fneur.2022.984866

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

Front Neurol. 2022 Aug 24:13:984866. doi: 10.3389/fneur.2022.984866. eCollection 2022.

Authors

Mubalake Yilihamu^{1

2

3}, Xiaolu Liu^{1

2

3}, Xiaoxuan Liu^{1

2

3}, Yong Chen^{1

2

3}, Dongsheng Fan^{1

2

3}

Affiliations

¹ Department of Neurology, Peking University Third Hospital, Beijing, China.
² Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.
³ Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, Beijing, China.

Abstract

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.

Keywords: FIG4; amyotrophic lateral sclerosis; case report; genetics; mutation.

Publication types

Case Reports