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Article

Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2024

Shephard Victoria K, Brown Mikayla L, Thompson Bryony A, Harpur Alisha, McAlary Luke

Abstract excerpt

Variants of the oxygen free radical scavenging enzyme superoxide dismutase-1 (SOD1) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS). These variants occur in roughly 20% of familial ALS cases, and 1% of sporadic ALS cases. Here, we identified a novel SOD1 variant in a patient in their 50s who presented with movement deficiencies and neuropsychiatric features. The variant was...

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Identifiers

PMID: 38742757
DOI: 10.1080/21678421.2024.2351177

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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