Elastin Microfibril Interface-Located Protein 1 (EMILIN1) Mutation Mimicking Axonal Hereditary Motor Sensory Neuropathy

Hereditary peripheral neuropathies may present as isolated neuropathy or as a part of a more complex neurological disorder. Hereditary motor sensory neuropathy is the most common form of hereditary neuropathy. The discovery of an increasing number of causative genes over the years has significantly complicated the classification of hereditary motor sensory neuropathy. Mutations in elastin microfibril interface-located protein 1 (EMILIN1) are linked to a range of connective tissue disorders, involving the vascular system, skeletal structures, and possibly the nervous system. We report a case of axonal hereditary motor sensory neuropathy associated with a mutation in the EMILIN1 gene.