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Article

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Journal of neurology, neurosurgery, and psychiatry - 1 May 2010

Felbecker Ansgar, Camu William, Valdmanis Paul N, Sperfeld Anne-Dorte, Waibel Stefan, Steinbach Peter, Rouleau Guy A, Ludolph Albert C, Andersen Peter M

Abstract excerpt

BACKGROUND: 153 mutations in the Cu/Zn superoxide dismutase (SOD1) gene have been claimed to be associated with amyotrophic lateral sclerosis (ALS) in familial and sporadic ALS in an autosomal dominant or autosomal recessive pattern with complete or reduced penetrance. The authors now report four ALS pedigrees from Finland, France, Germany and Sweden with either the D90A or E100K SOD1 mutations in some but not...

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Source

Identifiers

PMID: 20460594
DOI: 10.1136/jnnp.2009.192310

Genes

SOD1
ANG
DCTN1
FUS
VAPB

Provenance

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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