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Article

A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 May 2020

Canosa Antonio, Grassano Maurizio, Barberis Marco, Brunetti Maura, Manera Umberto, Vasta Rosario, Cammarosano Stefania, De Marco Giovanni, Calvo Andrea, Chiò Adriano, Moglia Cristina

Abstract excerpt

About 10% of Amyotrophic Lateral Sclerosis (ALS) cases are familial (FALS), mainly related to mutations in C9ORF72, SOD1, TARDBP, and FUS genes. Recent data revealed the presence of multiple variants in ALS-associated genes in FALS in excess of what is to be expected by chance. FALS patients not carrying a pathogenic genetic mutation detected in their kindred have been reported. We report a FALS case, who did not...

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PMID: 32223976
DOI: 10.1016/j.jocn.2020.03.032

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