A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.

BACKGROUND About 20% of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in SOD1 and is typically transmitted as an autosomal dominant trait. However, due to reduced mutation penetrance, the disease may present in a recessive or sporadic manner. OBJECTIVE To determine the factors responsible for the low penetrance of the SOD1 mutation… CONTINUE READING