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SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 (SIGMAR1) gene have been ide...

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Autores principales: Li, Haining, Xuan, Tingting, Xu, Ting, Yang, Juan, Cheng, Jiang, Wang, Zhenhai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533989/
https://www.ncbi.nlm.nih.gov/pubmed/37780700
http://dx.doi.org/10.3389/fneur.2023.1242472
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author Li, Haining
Xuan, Tingting
Xu, Ting
Yang, Juan
Cheng, Jiang
Wang, Zhenhai
author_facet Li, Haining
Xuan, Tingting
Xu, Ting
Yang, Juan
Cheng, Jiang
Wang, Zhenhai
author_sort Li, Haining
collection PubMed
description Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 (SIGMAR1) gene have been identified as one of the causes of ALS. Here, we present a case of a 49-year-old man diagnosed with ALS–Parkinson’s disease (PD) complex. The patient exhibited bradykinesia and tremor, and whole-exome sequencing revealed homozygous mutations in the SIGMAR1 gene (c.446-2A > T). In addition, we conducted an investigation into the clinical and molecular phenotype of previously reported variants of SIGMAR1 associated with ALS. This case report aims to raise awareness among physicians regarding atypical phenotypes of amyotrophic lateral sclerosis and to encourage further research on the factors leading to SIGMAR1 mutations in patients.
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spelling pubmed-105339892023-09-29 SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review Li, Haining Xuan, Tingting Xu, Ting Yang, Juan Cheng, Jiang Wang, Zhenhai Front Neurol Neurology Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 (SIGMAR1) gene have been identified as one of the causes of ALS. Here, we present a case of a 49-year-old man diagnosed with ALS–Parkinson’s disease (PD) complex. The patient exhibited bradykinesia and tremor, and whole-exome sequencing revealed homozygous mutations in the SIGMAR1 gene (c.446-2A > T). In addition, we conducted an investigation into the clinical and molecular phenotype of previously reported variants of SIGMAR1 associated with ALS. This case report aims to raise awareness among physicians regarding atypical phenotypes of amyotrophic lateral sclerosis and to encourage further research on the factors leading to SIGMAR1 mutations in patients. Frontiers Media S.A. 2023-09-13 /pmc/articles/PMC10533989/ /pubmed/37780700 http://dx.doi.org/10.3389/fneur.2023.1242472 Text en Copyright © 2023 Li, Xuan, Xu, Yang, Cheng and Wang. 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
Li, Haining
Xuan, Tingting
Xu, Ting
Yang, Juan
Cheng, Jiang
Wang, Zhenhai
SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title_full SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title_fullStr SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title_full_unstemmed SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title_short SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
title_sort sigmar1 variants in als–pd complex cases: a case report of a novel mutation and literature review
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533989/
https://www.ncbi.nlm.nih.gov/pubmed/37780700
http://dx.doi.org/10.3389/fneur.2023.1242472
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