Article
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Annals of clinical and translational neurology - 1 Jul 2024
Marriott Heather, Spargo Thomas P, Al Khleifat Ahmad, Andersen Peter M, Başak Nazli A, Cooper-Knock Johnathan, Corcia Philippe, Couratier Philippe, de Carvalho Mamede, Drory Vivian, Gotkine Marc, Landers John E, McLaughlin Russell, Pardina Jesús S Mora, Morrison Karen E, Pinto Susana, Shaw Christopher E, Shaw Pamela J, Silani Vincenzo, Ticozzi Nicola, van Damme Philip, van den Berg Leonard H, Vourc'h Patrick, Weber Markus, Veldink Jan H, Dobson Richard J, Schwab Patrick, Al-Chalabi Ammar, Iacoangeli Alfredo
Abstract excerpt
OBJECTIVE: Neurofilament heavy-chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. METHODS: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and...
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