De novo mutations in SOD1 are a cause of ALS.
Kathrin MüllerKi-Wook OhAngelica NordinSudhan PanthiSeung Hyun KimFrida NordinAxel FreischmidtAlbert C LudolphChang Seok KiKarin ForsbergJochen WeishauptYoung-Eun KimPeter Munch AndersenPublished in: Journal of neurology, neurosurgery, and psychiatry (2021)
De novo mutations are a cause of sporadic ALS and may also be underpinning smaller families with few affected ALS cases. It was not possible to ascertain if the origin of the de novo mutations was parental germline, zygotic or postzygotic during embryonal development. All ALS patients should be offered genetic counselling and genetic screening, the challenges of variant interpretation do not outweigh the potential benefits including earlier confirmed diagnosis and possible bespoken therapy.