In our current study, we also identified four novel CHMP2B mutations, one of which was present in a PMA patient (p.R69Q [c.206G>A]), and three in ALS patients (p.R22Q [c.65G>A], p.N54T [c.161A>C], p.T83I [c.248C>T]). This evidence concerns the gene CHMP2B and amyotrophic lateral sclerosis.