As well as being responsible for an autosomal recessive form of lipodystrophy, mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene encoding seipin may also result in a number of autosomal dominant forms of MND including HSP with amyotrophy (Silver syndrome; SPG17), CMT2, and dHMN type V (Windpassinger et al., 2004; Cen et al., 2015). Here, BSCL2 is linked to lipodystrophy.