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The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020

Corrado Lucia, Pensato Viviana, Croce Roberta, Di Pierro Alice, Mellone Simona, Dalla Bella Eleonora, Salsano Ettore, Paraboschi Elvezia Maria, Giordano Mara, Saraceno Massimo, Mazzini Letizia, Gellera Cinzia, D'Alfonso Sandra

Abstract excerpt

Here, we described the first amyotrophic lateral sclerosis patient presenting the c.881 G > T p.G294V TARDBP mutation in homozygous status. The patient belongs to a large pedigree from Morocco. Except for one older affected brother his parents and remaining 8 sibs are referred to be healthy and do not show any neurological sign or symptom. The lack of evidence of TARDBP deletions of any sizes, together with the...

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PMID: 31852254
DOI: 10.1080/21678421.2019.1704011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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