BSCL2 and neuronopathy, distal hereditary motor, type 5: Mutations in BSCL2, encoding Seipin, are responsible for pleiotropic clinical manifestations ranging from autosomal-recessive congenital generalized lipodystrophy to autosomal-dominant seipin-related motor neuron diseases, such as distal hereditary motor neuropathy type V (dHMN-V), Silver syndrome/SPG17, and CMT2 [62].