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A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Blasco H, Bernard-Marissal N, Vourc'h P, Guettard YO, Sunyach C, Augereau O, Khederchah J, Mouzat K, Antar C, Gordon PH, Veyrat-Durebex C, Besson G, Andersen PM, Salachas F, Meininger V, Camu W, Pettmann B, Andres CR, Corcia P; French ALS Study Group. Blasco H, et al. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group. Corcia P, et al. Neurology. 2006 Oct 10;67(7):1147-50. doi: 10.1212/01.wnl.0000233830.85206.1e. Epub 2006 Aug 23. Neurology. 2006. PMID: 16931506 Clinical Trial.