Autosomal dominant axonal hereditary motor and sensory polyneuropathy caused by a mutation in the LRSAM1 gene (HMSN type 2P)

To date, more than 80 genes associated with Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), have been described. Mutations in the LRSAM1 gene have been identified as a rare cause and define the axonal hereditary motor and sensory neuropathy type 2P subgroup. We present two patients from 1 family identified with the pathogenic variant c.2011C>T (p.Gln671Ter) in the LRSAM1 gene. Clinical and electrophysiological data confirm a late-onset axonal neuropathy with a predominance of sensorimotor impairment. In conclusion, HMSN type 2P is a rare axonal neuropathy with an autosomal dominant mode of inheritance with onset in adulthood.