The Effect of <scp><i>SMN</i></scp> Gene Dosage on <scp>ALS</scp> Risk and Disease Severity

Abstract

In our well-powered study, there was no association of SMN1 or SMN2 copy numbers with the risk of ALS or ALS disease severity. This suggests that changing SMN protein levels in the physiological range may not modify ALS disease course. This is an important finding in the light of emerging therapies targeted at SMN deficiencies. ANN NEUROL 2021;89:686-697.