A New Analysis of the Penetrance of the C9orf72 Expansion

Prof Ruben van Eijk and colleagues have recently published a paper (https://www.tandfonline.com/doi/full/... ) that shows through two methods, a penetrance of C9orf72 for ALS of less than 25%. The first method was a survey of C9orf72 ALS patients in the Netherlands regarding their immediate family members. The second method was analyzing the number of C9orf72 Expansion carriers found in population screens in comparison to how many C9orf72 ALS and FTD cases there are. Both showed an agreement of a much lower penetrance than previously published. They do note in their survey of families in the Netherlands that several families had many affected individuals, so much so that it seems likely they have a family-specific penetrance that is higher for reasons we do not know yet.

As a statistical consultant and medical statistician, Prof van Eijk focuses on addressing methodological challenges in clinical drug development to further accelerate clinical trials for neuromuscular diseases.