Type 2A Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2A; Charcot-Marie-Tooth disease, axonal, Type 2A; Charcot-Marie-Tooth disease, neuronal, Type 2A; HMSN IIA; Hereditary motor and sensory neuropathy 2 A

Networked: 17 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

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 2A Charcot-Marie-Tooth disease: 17
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2A Charcot-Marie-Tooth disease: 17

Related Diseases

1.	Fragile X Syndrome (Martin Bell Syndrome)
2.	Peripheral Nervous System Diseases (PNS Diseases)
3.	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Type 2K Charcot-Marie-Tooth disease

Experts

1.	Dorn, Gerald W: 3 articles (10/2020 - 01/2019)
2.	Franco, Antonietta: 3 articles (10/2020 - 01/2019)
3.	Baloh, Robert H: 2 articles (10/2020 - 01/2019)
4.	Dang, Xiawei: 2 articles (10/2020 - 01/2020)
5.	Chevrollier, Arnaud: 2 articles (01/2012 - 05/2011)
6.	Procaccio, Vincent: 2 articles (01/2012 - 05/2011)
7.	Cartoni, Romain: 2 articles (05/2011 - 05/2010)
8.	Martinou, Jean-Claude: 2 articles (05/2011 - 05/2010)
9.	Abati, Elena: 1 article (01/2022)
10.	Bassi, Maria Teresa: 1 article (01/2022)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 01/01/2012 - "Contrary to previous studies in patients with Charcot-Marie-Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 protein expression. " 02/07/2023 - "Although correctly spliced full-length MFN2 transcripts are still produced, this branch point variant results in deficient MFN2 protein levels and autosomal recessive Charcot-Marie-Tooth disease, axonal, type 2A (CMT2A). " 12/15/2022 - "Phenotypic variations in Charcot-Marie-Tooth disease type 2A (CMT2A) result from the many mutations in the mitochondrial fusion protein, mitofusin 2 (MFN2). " 01/01/2022 - "Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. " 10/26/2021 - "Charcot-Marie-Tooth disease type 2A (CMT2A) is the most common hereditary axonal neuropathy caused by mutations in MFN2 encoding Mitofusin-2, a multifunctional protein located in the outer mitochondrial membrane. "
2.	1,2,3,4-tetrahydroquinolineIBA 01/01/2021 - "SW-100 (1a), a phenylhydroxamate-based HDAC6 inhibitor (HDAC6i) bearing a tetrahydroquinoline (THQ) capping group, is a highly potent and selective HDAC6i that was shown to be effective in mouse models of Fragile X syndrome and Charcot-Marie-Tooth disease type 2A (CMT2A). "
3.	SW-100IBA 01/01/2021 - "SW-100 (1a), a phenylhydroxamate-based HDAC6 inhibitor (HDAC6i) bearing a tetrahydroquinoline (THQ) capping group, is a highly potent and selective HDAC6i that was shown to be effective in mouse models of Fragile X syndrome and Charcot-Marie-Tooth disease type 2A (CMT2A). "
4.	KinesinsIBA 01/01/2003 - "Recently, a missense mutation in the gene for the kinesin superfamily KIF1B was reported as the cause of Charcot Marie Tooth disease type 2A (CMT2A). " 07/01/2002 - "Mutation in KIF1B, a kinesin superfamily motor protein, causes a peripheral neuropathy known as Charcot-Marie-Tooth disease type 2A (CMT2A). "
5.	Membrane Proteins (Integral Membrane Proteins)IBA 01/01/2019 - "Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system. " 05/01/2011 - "Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2), which encodes a mitochondrial outer membrane protein that promotes mitochondrial fusion. "
6.	GTP Phosphohydrolases (GTPases)IBA 01/01/2022 - "Previously, we found that fibroblasts derived from a Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation in the GTPase domain of MFN2 exhibit increased proliferation and decreased autophagy. "