NEK1 Discovery: Questions and Answers

Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. Below are some common questions and our answers, along with places to read more information.

Are NEK1 mutations associated with both familial (inherited) and sporadic (non-inherited) ALS?

Yes – NEK1 mutations are associated with both familial and sporadic ALS. Together, NEK1 is associated with 3% of all ALS cases.

How is the NEK1 gene inherited?

Currently, researchers do not know how the NEK1 gene is inherited, its penetrance (i.e. the proportion of individuals with the NEK1 mutation that show ALS symptoms) or whether the mutation is sufficient alone to cause disease. Researchers are now working diligently to answer these significant questions.

Most familial ALS genes are autosomal dominant for inheritance, meaning that the parent who has a genetic change (mutation) that causes ALS has a 50% chance of passing that mutation to each of his or her children. It is also important to understand that if a person inherits the genetic change, the person is not certain to develop ALS symptoms. Continue reading NEK1 Discovery: Questions and Answers