Article

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

2024-01-20

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 he...

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Literature Corpus work: 69794789-d14e-5383-86ca-e3da0e24aff4
DOI: 10.1101/2024.01.17.23300408

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