The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Matthieu MoisseRamona A J ZwambornJoke J F A van VugtRick A A van der SpekWouter Van RheenenBrendan KennaKristel Van EijkKevin KennaPhilippe CorciaPhilippe CouratierPatrick Vourc'hOrla HardimanRussell Lewis McLaughlinMarc GotkineVivian DroryNicola TicozziVincenzo SilaniMamede de CarvalhoJesus S MoraMonica PovedanoPeter Munch AndersenMarkus WeberAyse Nazli BasakXiao ChenMichael A EberleAmmar Al ChalabiChris ShawDame Pamela J ShawKaren E MorrisonJohn E LandersJonathan D GlassWim RobberechtMichael A Van EsLeonard H Van Den BergJan Herman VeldinkPhilip Van Dammenull nullPublished in: Annals of neurology (2021)
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.