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Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2022

De La Cruz Elisa, Guissart Claire, Esselin Florence, Polge Anne, Pageot Nicolas, Taieb Guillaume, Lumbroso Serge, Camu William, Mouzat Kevin

Abstract excerpt

Objectives: To describe a family with heterozygous P67S and D91A SOD1 mutations. Methods: The ALS profile of the proband was described. SOD1 gene sequencing was performed in the proband and his children. Results: The affected individual presented with progressive left peripheral facial palsy and slow progression with late limb involvement. Unequivocal upper and lower motor neuron signs were present, together with...

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Identifiers

PMID: 34668453
DOI: 10.1080/21678421.2021.1990344

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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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