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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)47-50
Number of pages4
JournalJournal of the Peripheral Nervous System
Volume22
Issue number1
DOIs
Publication statusPublished - Mar 1 2017

Keywords

  • Charcot-Marie-Tooth disease
  • CMT4
  • demyelinating recessive CMT
  • hereditary motor and sensory neuropathy Lom type
  • N-Myc downstream-regulated gene 1 (NDRG1)

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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