Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.

doi:10.1136/jnnp-2020-325921

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Article

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2021

Muratet François, Teyssou Elisa, Chiot Aude, Boillée Séverine, Lobsiger Christian S, Bohl Delphine, Gyorgy Beata, Guegan Justine, Marie Yannick, Amador Maria Del Mar, Salachas Francois, Meininger Vincent, Bernard Emilien, Antoine Jean-Christophe, Camdessanché Jean-Philippe, Camu William, Cazeneuve Cécile, Fauret-Amsellem Anne-Laure, Leguern Eric, Mouzat Kevin, Guissart Claire, Lumbroso Serge, Corcia Philippe, Vourc'h Patrick, Grapperon Aude-Marie, Attarian Shahram, Verschueren Annie, Seilhean Danielle, Millecamps Stéphanie

Abstract excerpt

OBJECTIVE: Mutations in superoxide dismutase 1 gene (SOD1), encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor neuron disease in populations of European descent. More than 200 missense variants are reported along the SOD1 protein. To limit the production of these aberrant and deleterious SOD1 species, antisense...

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PMID: 33785574
DOI: 10.1136/jnnp-2020-325921

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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