SPTLC1 and hereditary sensory and autonomic neuropathy type 1: Hereditary sensory neuropathy (HSN) is a group of inherited peripheral nerve disorders, the most common of which, HSN-1, is an autosomal, dominant disease frequently caused by mutations in the genes encoding serine palmitoyl transferase long chain base subunits 1 and 2 (SPTLC1 and SPTLC2; Dawkins et al., 2001; Nicholson et al., 1996; Rotthier et al., 2010).