Type 4E Charcot-Marie-Tooth disease

A form of Charcot-Marie-Tooth Disease that may be autosomal dominant or recessive. It is characterized by the early onset of MUSCLE HYPOTONIA; areflexia, distal muscle weakness, and very slow nerve conduction velocities due to DEMYELINATION. Mutations in the MPZ and EGR2 genes have been identified. OMIM: 605253

Also Known As:

Networked: 20 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
2.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
3.	Peripheral Nervous System Diseases (PNS Diseases)

Experts

1.	Bansal, Rashmi: 3 articles (05/2019 - 01/2019)
2.	Belin, Sophie: 3 articles (05/2019 - 01/2019)
3.	D'Antonio, Maurizio: 3 articles (05/2019 - 01/2019)
4.	Feltri, M Laura: 3 articles (05/2019 - 01/2019)
5.	Fratta, Pietro: 3 articles (05/2019 - 01/2019)
6.	Ishii, Akihiro: 3 articles (05/2019 - 01/2019)
7.	Lopez-Anido, Camila: 3 articles (05/2019 - 01/2019)
8.	Nave, Klaus: 3 articles (05/2019 - 01/2019)
9.	Ornaghi, Francesca: 3 articles (05/2019 - 01/2019)
10.	Poitelon, Yannick: 3 articles (05/2019 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 4E Charcot-Marie-Tooth disease:

1.	Myelin P0 Protein (Myelin Protein Zero)IBA 01/01/2013 - "We describe a boy aged 2 years and 11 months with congenital hypomyelinating neuropathy attributable to a de novo heterozygous missense mutation of c.181 G>A (p.Asp61Asn) in the myelin protein zero gene. " 01/01/2013 - "Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene." 01/01/2004 - "The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease. " 09/01/2003 - "Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation." 06/15/2009 - "Less frequently, mutations in the myelin protein zero gene (MPZ/P(0)) account for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital hypomyelinating neuropathy (CHN). "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2019 - "Mutations in contactin-associated protein 1 (CNTNAP1) were recently described as a cause of congenital hypomyelinating neuropathy. " 01/20/2022 - "Contactin-associated protein 1 (CNTNAP1)-related congenital hypomyelinating neuropathy (CHN) is a rare type of peripheral neuropathy and has a clinically heterogeneous presentation. " 11/01/2005 - "Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe, childhood-onset Dejerine-Sottas neuropathy and congenital hypomyelinating neuropathy. " 04/01/2000 - "Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN). "
3.	Neuregulin-1 (Neuregulin 1)IBA 05/15/2019 - "Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy." 01/01/2019 - "Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy." 01/01/2019 - "Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy."
4.	Transcription Factors (Transcription Factor)IBA 02/15/2005 - "Egr2 is a transcription factor required for peripheral nerve myelination in rodents, and mutations in Egr2 are associated with congenital hypomyelinating neuropathy (CHN) in humans. " 09/20/2006 - "Onset of myelination in Schwann cells is governed by several transcription factors, including Krox20/Egr2, and mutations affecting Krox20 result in various human hereditary peripheral neuropathies, including congenital hypomyelinating neuropathy (CHN) and Charcot-Marie-Tooth disease (CMT). " 07/01/2001 - "Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2. "
5.	Myelin ProteinsIBA 01/01/2004 - "To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. " 07/01/2001 - "Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2. "
6.	ConnexinsIBA 07/01/2001 - "Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2. "
7.	Isoleucine (L-Isoleucine)FDA Link 06/04/2008 - "Krox20 is known to interact with cofactors of the Nab family and a mutation affecting isoleucine 268, which prevents this interaction, has been shown to result in congenital hypomyelinating neuropathy in humans. "
8.	DNA (Deoxyribonucleic Acid)IBA 10/01/2006 - "A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy."
9.	Codon (Codons)IBA 03/01/2001 - "Its mutation was a different amino acid substitution at codon 381 (Arg381His) which demonstrated congenital hypomyelinating neuropathy or early-onset CMT1. "