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Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026

Gondim Francisco de Assis Aquino, Fernandes José Marcelino Aragão, Dutra Junior Avelino Missialdes, Thomas Florian P

Abstract excerpt

Objective: SOD1 mutations are the second most prevalent variants in amyotrophic lateral sclerosis (ALS). Epidemiological data about SOD1 mutations are scarce in Brazil. Here, we report the clinical and genetic findings of four Brazilian families with p.Val120Leu SOD1 variant. Methods: This study is part of an epidemiological study of the prevalence of ALS conducted in the State of Ceará, Brazil. We reviewed the...

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PMID: 41359166
DOI: 10.1080/21678421.2025.2597943

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SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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