Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS

Variants in <i>CHCHD10</i> have been found in ALS and other neurodegenerative diseases, exhibiting significant clinical variability. However, the combinatorial effect of <i>CHCHD10</i> and other ALS-related gene variants has not been fully studied. Our findings suggest that the combined impact of these four variants contributes to this patient's ALS phenotype, distinguishing it from other, less severe neuromuscular disorders associated with <i>CHCHD10</i> mutations. Overall, this study further supports the oligogenic pathogenic basis of ALS and offers new insights into understanding the intricate clinical presentations associated with <i>CHCHD10</i> variants.