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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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
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author Yilihamu, Mubalake
Liu, Xiaolu
Liu, Xiaoxuan
Chen, Yong
Fan, Dongsheng
author_facet Yilihamu, Mubalake
Liu, Xiaolu
Liu, Xiaoxuan
Chen, Yong
Fan, Dongsheng
author_sort Yilihamu, Mubalake
collection PubMed
description 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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spelling pubmed-94488962022-09-08 Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis Yilihamu, Mubalake Liu, Xiaolu Liu, Xiaoxuan Chen, Yong Fan, Dongsheng Front Neurol Neurology 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. Frontiers Media S.A. 2022-08-24 /pmc/articles/PMC9448896/ /pubmed/36090855 http://dx.doi.org/10.3389/fneur.2022.984866 Text en Copyright © 2022 Yilihamu, Liu, Liu, Chen and Fan. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Yilihamu, Mubalake
Liu, Xiaolu
Liu, Xiaoxuan
Chen, Yong
Fan, Dongsheng
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title_full Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title_fullStr Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title_full_unstemmed Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title_short Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
title_sort case report: a variant of the fig4 gene with rapidly progressive amyotrophic lateral sclerosis
topic Neurology
url 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
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