Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.

Mutations in the HINT1 gene, encoding the histidine triad nucleotide-binding protein 1, have been recently shown to be associated with hereditary axonal sensorimotor neuropathy with or without neuromyotonia. HINT1 mutations have been related also to distal hereditary motor neuropathies (dHMNs) thus suggesting wide clinical heterogeneity. Unfortunately, hint1 knockout mice failed to provide a valid model for the human disease. Here we describe a patient with distal motor axonal neuropathy without neuromyotonia due to a new mutation of the HINT1 gene.