ArticleNeuromuscular disorders : NMD2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
Article in Neuromuscular disorders : NMD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- BiallelicJournal of neuromuscular diseases · 2026Article
- Article
- Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.Cellular and molecular life sciences : CMLS · 2025Article
- A novelFrontiers in genetics · 2025Article
- The sigma-1 receptor as a neurohomeostatic decision hub for GABARAP-mediated receptor trafficking and macroautophagy.Frontiers in molecular biosciences · 2025Article
- SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.Functional & integrative genomics · 2024Article
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.Brain : a journal of neurology · 2024Article
- Development of Fluorescent 4-[4-(3Journal of medicinal chemistry · 2023Article
- Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.Frontiers in physiology · 2021Review
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Distal hereditary motor neuropathy (dHMN) is an inherited neuromuscular disease characterized by symmetric distal weakness and atrophy without sensory changes. There are about thirty known genes associated with dHMN, but together they explain only about a third of cases. Mutations in the sigma non-opioid intracellular receptor 1 gene (SIGMAR1) has been linked to autosomal recessive dHMN with pyramidal signs in several families. This phenotype can mimic amyotrophic lateral sclerosis (ALS). We report a 39-year-old man who was referred to our ALS clinic with distal motor weakness and hyperreflexia. Whole exome sequencing identified two novel variants in the SIGMAR1 gene in the proband. Targeted Sanger sequencing of asymptomatic family members confirmed that each carried one of these two variants. Our findings expand the number of known SIGMAR1 pathogenic variants associated with dHMN, which should be clinically distinguished from ALS.
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