Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.

By further stratifying NEFH variants into high‐frequency rare and ultrarare categories, we identified a similar but albeit weaker significant association for the high‐frequency rare missense tail variants (OR 3.91, 95% CI 1.77–8.64, p fixed‐effect = 0.0007), with ultrarare missense tail variants approaching significance for increasing ALS risk and a showing consistent effect (OR 5.05, 95% CI 0.84–30.22; p fixed‐effect = 0.08).

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