A novel NDRG1 mutation in a non‐Romani patient with CMT4D / HMSN ‐Lom

Charcot‐Marie‐Tooth disease type 4D ( CMT4D ), also known as hereditary motor and sensory neuropathy Lom type ( HMSNL ), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N‐Myc downstream‐regulated gene 1 ( NDRG1 ) mutations. CMT4D is rare with only three known mutations, one of which (p. Arg148Ter ) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38‐year‐old Italian female with motor development delay, progressive neuropathy, and sensorineural deafness. Magnetic resonance imaging showed slight atrophy of cerebellum, medulla oblongata, and upper cervical spinal cord. She had a novel homozygous NDRG1 frameshift mutation (c. 739delC ; p. His247ThrfsTer74 ). The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT .