Type 2E Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2E; CMT 2E; CMT2e; Charcot-Marie-Tooth Neuropathy, Type 2e; Charcot-Marie-Tooth disease, axonal, Type 2E

Networked: 14 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2E Charcot-Marie-Tooth disease: 14
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2E Charcot-Marie-Tooth disease: 14

Related Diseases

1.	Type 2E Charcot-Marie-Tooth disease
2.	Muscular Atrophy (Muscle Atrophy)
3.	Type 1F Charcot-Marie-Tooth disease
4.	Peripheral Nervous System Diseases (PNS Diseases)
5.	Type 4B1 Charcot-Marie-Tooth disease

Experts

1.	Liem, Ronald K H: 3 articles (01/2017 - 03/2008)
2.	Choi, Byung-Ok: 2 articles (01/2022 - 01/2008)
3.	Chung, Ki Wha: 2 articles (01/2022 - 01/2008)
4.	Brown, Kristy: 2 articles (01/2017 - 04/2015)
5.	Zhao, Jian: 2 articles (01/2017 - 04/2015)
6.	Dale, Jeffrey M: 2 articles (11/2015 - 07/2011)
7.	Garcia, Michael L: 2 articles (11/2015 - 07/2011)
8.	Shen, Hailian: 2 articles (11/2015 - 07/2011)
9.	Julien, Jean-Pierre: 2 articles (07/2010 - 12/2007)
10.	Hong, Young Bin: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2E Charcot-Marie-Tooth disease:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2019 - "Prior studies on cultured cells have shown that CMT2E/1F mutations disrupt neurofilament assembly and lead to protein aggregation, suggesting a possible disease mechanism. " 03/01/2008 - "Mutations in the neurofilament light (NFL) chain gene lead to the CMT2E form whereas mutations in the myotubularin-related protein 2 and 13 (MTMR2 and MTMR13) genes lead to the CMT4B form. " 01/01/2019 - "Charcot-Marie-Tooth disease Type 2E/1F (CMT2E/1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo. "
2.	Sodium Channels (Sodium Channel)IBA 07/21/2015 - "The study of the nodal/paranodal architecture demonstrated that sodium channels and Caspr were correctly localized in patients with CMT2E. "
3.	neurofilament protein LIBA 01/01/2017 - "Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. " 04/15/2015 - "Multiple mutations in the neurofilament light polypeptide gene, NEFL, cause CMT2E. " 01/01/2022 - "Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. " 01/01/2019 - "Charcot-Marie-Tooth disease Type 2E/1F (CMT2E/1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo. "
4.	Peptides (Polypeptides)IBA 05/01/2017 - "Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene. " 01/01/2008 - "Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. "
5.	Small Heat-Shock ProteinsIBA 12/15/2007 - "Mutations in neurofilament light (NFL) subunit and small heat-shock protein B1 (HSPB1) cause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F (CMT2F). "
6.	Glutamic Acid (Glutamate)FDA Link 07/01/2011 - "To provide insight into disease pathogenesis, we developed a novel line of CMT2E mice that constitutively express human NF-L (hNF-L) with a glutamic acid to lysine mutation at position 397 (hNF-L(E397K)). "
7.	Neurofilament ProteinsIBA 01/01/2019 - "Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments."
8.	Lysine (L-Lysine)FDA Link 07/01/2011 - "To provide insight into disease pathogenesis, we developed a novel line of CMT2E mice that constitutively express human NF-L (hNF-L) with a glutamic acid to lysine mutation at position 397 (hNF-L(E397K)). "
9.	Heat-Shock Proteins (Heat-Shock Protein)IBA 06/01/2009 - "Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion."
10.	Doxycycline (Periostat)FDA LinkGeneric 07/01/2010 - "To address whether CMT2E disease is potentially reversible, we generated a mouse model with conditional doxycycline-responsive gene system that allows repression of mutant hNF-LP22S transgene expression in adult neurons. "

Therapies and Procedures

1.	Therapeutics 04/15/2015 - "The Nefl(N98S/+) mice provide an excellent model to study the pathogenesis of CMT2E and should prove useful for testing potential therapies. "
2.	Denervation 11/19/2015 - "We generated a novel line of CMT2E mice expressing hNF-L(E397K), which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons, and decreased nerve conduction velocity. " 04/01/2012 - "We generated a novel line of CMT2E mice expressing an hNF-L(E397K) transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. "