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Slowly progressing Amyotrophic lateral sclerosis associated with the F21L variant in the SOD1 gene: Demographic and clinical characteristics.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2025

Correa-Arrieta Cristian, Castellar-Leones Sandra, Forero Diaz John Jairo, Peña-Preciado Martha, Ortiz-Corredor Fernando

Abstract excerpt

INTRODUCTION/OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease in which genetic variants can significantly influence clinical presentation and prognosis. This study aims to describe the demographic and clinical characteristics of ALS patients carrying the SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant, as treated at a national reference center in Colombia. METHODS: A descriptive...

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PMID: 39431590
DOI: 10.1080/21678421.2024.2416669

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SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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