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SOD1-related ALS with anticipation in a large family from Martinique.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2021

Giguet-Valard Anna-Gaelle, Bellance Rémi, Jeannin Séverine, Duclos Sophie, Olive Pascale, Allard-Saint-Albin Oriane, Cazeneuve Cécile, Clot Fabienne, Sophie Pittion-Vouyovitch, Barnetche Thomas, Smith-Ravin Juliette, Goizet Cyril

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic variant is found in one of the following genes: C9ORF72, SOD1, TDP-43, FUS, and VCP. SOD1 is the 2nd most common gene involved in genetic forms of ALS....

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PMID: 33754899
DOI: 10.1080/21678421.2021.1900870

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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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