BSCL2 and Charcot-Marie-Tooth disease type 2: Mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2) were originally identified in patients with autosomal recessive generalized congenital lipodystophy type 2 (MIM #269700) [1] and, later, were also found to cause a broad continuum of neurological diseases, including distal hereditary motor neuropathy (dHMN) type V (dHMNV; MIM #600794) [2,3,4], axonal form of Charcot-Marie-Tooth disease (CMT2) [4], Silver syndrome (MIM #270685) [2,3,4], pure or complicated hereditary spastic paraparesis [4] and, rarely, autosomal recessive progressive encephalopathy (MIM #615924) [5].