Quadruple genetic variants in a sporadic ALS patient.
Rüstem YilmazKanchi WeishauptIvan ValkadinovAntje KnehrDavid BrennerJochen H WeishauptPublished in: Molecular genetics & genomic medicine (2022)
Our study suggests that SALS can be caused by the additive or synergistic action of low-effect size mutations. Broader use of gene panel analysis or whole exome/genome sequencing may reveal a potentially treatable oligogenic causation in a higher percentage of SALS than previously thought.