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Article

Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation.

Acta neuropathologica - 1 Jan 2023

Forsberg Karin M, Graffmo Karin S, Stenvall Erica, Tabikh Naima, Marklund Stefan L, Brännström Thomas, Andersen Peter M

Abstract excerpt

Mutations in the gene encoding the ubiquitously expressed free radical scavenging enzyme superoxide dismutase-1 (SOD1) are found in 2-6% of amyotrophic lateral sclerosis patients. The most frequent SOD1 mutation worldwide is D90A. Amyotrophic lateral sclerosis caused by this mutation has some unusual features: the heredity is usually recessive, the phenotype is stereotypic with slowly evolving motor symptoms...

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PMID: 36385230
DOI: 10.1007/s00401-022-02519-z
PMCID: PMC9807479

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