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Article

A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity.

Journal of neurology - 1 Mar 2023

Fahmy Nagia, Müller Kathrin, Andersen Peter Munch, Marklund Stefan L, Otto Markus, Ludolph Albert C, Hamdi Nabila

Abstract excerpt

BACKGROUND: The dose-effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype. METHODS: Whole exome sequencing and targeted screening of commonly...

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Identifiers

PMID: 36472686
DOI: 10.1007/s00415-022-11489-x
PMCID: PMC9971132

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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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