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...

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Detalles Bibliográficos
Autores principales: Yilihamu, Mubalake, Liu, Xiaolu, Liu, Xiaoxuan, Chen, Yong, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448896/
https://www.ncbi.nlm.nih.gov/pubmed/36090855
http://dx.doi.org/10.3389/fneur.2022.984866
Descripción
Sumario: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.

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