Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Heather MarriottThomas P SpargoAhmad Al KhleifatPeter M AndersenAyse Nazli BasakJohnathan Cooper-KnockPhilippe CorciaPhilippe CouratierMamede de CarvalhoVivian DroryMarc GotkineJohn E LandersRussell McLaughlinJesús S Mora PardinaKaren E MorrisonSusana PintoChristopher E ShawPamela J ShawVincenzo SilaniNicola TicozziPhilip Van DammeLeonard H van den BergPatrick Vourc'hMarkus WeberJan H Veldinknull nullRichard J DobsonPatrick SchwabAmmar Al ChalabiAlfredo IacoangeliPublished in: Annals of clinical and translational neurology (2024)
We showed that NEFH tail missense and in-frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered.