BSCL2 and Charcot-Marie-Tooth disease axonal type 2S: In contrast, missense mutations in seipin at residues located in the ER lumen, N88S and S90L, are responsible of dominant forms of HSP (SPG17) and other neurological conditions, such as Silver syndrome, Charcot-Marie-Tooth neuropathy type 2, and distal hereditary motor neuropathy (dHMN) type V (Irobi et al., 2004; Windpassinger et al., 2004).