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

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3 Citations (Scopus)

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

Fingerprint

Hereditary Sensory and Motor Neuropathy
Roma
Mutation
Genes
Medulla Oblongata
Frameshift Mutation
Deafness
Hearing Loss
Cerebellum
Atrophy
Differential Diagnosis
Magnetic Resonance Imaging
Hereditary motor and sensory neuropathy, LOM type

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

Cite this

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title = "A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom",
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.",
keywords = "Charcot-Marie-Tooth disease, CMT4, demyelinating recessive CMT, hereditary motor and sensory neuropathy Lom type, N-Myc downstream-regulated gene 1 (NDRG1)",
author = "Giuseppe Piscosquito and Stefania Magri and Paola Saveri and Micaela Milani and Claudia Ciano and Laura Farina and Franco Taroni and Davide Pareyson",
year = "2017",
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T1 - A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom

AU - Piscosquito, Giuseppe

AU - Magri, Stefania

AU - Saveri, Paola

AU - Milani, Micaela

AU - Ciano, Claudia

AU - Farina, Laura

AU - Taroni, Franco

AU - Pareyson, Davide

PY - 2017/3/1

Y1 - 2017/3/1

N2 - 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.

AB - 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.

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KW - N-Myc downstream-regulated gene 1 (NDRG1)

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