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Article

Immune Dysregulation in a Child With SOD1-Related Neurological Disease.

American journal of medical genetics. Part A - 1 Apr 2025

Boutin Rozlyn Claire Thomas, Shobeirian Farzaneh, Adam Shelin, Lehman Anna, Salvarinova Ramona, Friedman Jan M

Abstract excerpt

Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are associated with homozygosity for the same genetic variant...

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Identifiers

PMID: 39629626
DOI: 10.1002/ajmg.a.63949

Genes

SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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