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Article

A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation

Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy
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Author to whom correspondence should be addressed.
Academic Editors: Michele Cioffi and Maria Teresa Vietri
Genes 2021, 12(10), 1544; https://doi.org/10.3390/genes12101544
Received: 23 August 2021 / Revised: 25 September 2021 / Accepted: 26 September 2021 / Published: 29 September 2021
(This article belongs to the Special Issue Genotype-Phenotype Study in Disease)
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disorder characterized by degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. Most cases of ALS appear sporadically, but 5–10% of patients have a family history of disease. Mutations in the superoxide dismutase 1 gene (SOD1) have been found in 12–23% of familial cases and in 1–2% of sporadic cases. Currently, more than 180 different SOD1 gene variants have been identified in ALS patients. Here, we describe two apparently sporadic ALS patients carrying the same SOD1 c.355G>A variant, leading to the p.V119M substitution, not previously described. Both the patients showed pure lower motor neuron phenotype. The former presented with the flail leg syndrome, a rare ALS variant, characterized by progressive distal onset weakness and atrophy of lower limbs, slow progression and better survival than typical ALS. The latter exhibited rapidly progressive weakness of upper and lower limbs, neither upper motor neuron nor bulbar involvement, and shorter survival than typical ALS. We provide an accurate description of the phenotype, and a bioinformatics analysis of the p.V119M variant on protein structure. This study may increase the knowledge about genotype-phenotype correlations in ALS and improve the approach to ALS patients. View Full-Text
Keywords: amyotrophic lateral sclerosis; SOD1 gene; novel variant; p.V119M; pure lower motor neuron phenotype; flail leg variant; progressive muscular atrophy; phenotype-genotype correlation; modelization amyotrophic lateral sclerosis; SOD1 gene; novel variant; p.V119M; pure lower motor neuron phenotype; flail leg variant; progressive muscular atrophy; phenotype-genotype correlation; modelization
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MDPI and ACS Style

Ricci, C.; Giannini, F.; Riolo, G.; Bocci, S.; Casali, S.; Battistini, S. A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes 2021, 12, 1544. https://doi.org/10.3390/genes12101544

AMA Style

Ricci C, Giannini F, Riolo G, Bocci S, Casali S, Battistini S. A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes. 2021; 12(10):1544. https://doi.org/10.3390/genes12101544

Chicago/Turabian Style

Ricci, Claudia, Fabio Giannini, Giulia Riolo, Silvia Bocci, Stefania Casali, and Stefania Battistini. 2021. "A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation" Genes 12, no. 10: 1544. https://doi.org/10.3390/genes12101544

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