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A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2024

Fernandes José Marcelino Aragão, Gondim Francisco de Assis Aquino

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease usually associated with severe weakness and death within 2-5 years. SOD1 mutations cause hereditary ALS in autosomal dominant and rarely in recessive pattern. We describe a new phenotype of slowly progressive fALS due to homozygous SOD1 mutations (c.358G > C, p.Val120Leu) in a Brazilian family. We reviewed the medical chart and interviewed the...

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Identifiers

PMID: 38720484
DOI: 10.1080/21678421.2024.2346824

Genes

SOD1

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