Type 2F Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2F; CMT 2F; Charcot-Marie-Tooth Neuropathy, Type 2f; Charcot-Marie-Tooth disease, axonal, Type 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; Cmt2f

Networked: 18 relevant articles (1 outcomes, 0 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 2F Charcot-Marie-Tooth disease: 18
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2F Charcot-Marie-Tooth disease: 18

Related Diseases

1.	Type 2F Charcot-Marie-Tooth disease
2.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
3.	Peripheral Nervous System Diseases (PNS Diseases)
4.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
5.	Type II Distal Hereditary Motor Neuropathy

Experts

1.	Choi, Byung-Ok: 3 articles (01/2016 - 06/2008)
2.	Timmerman, Vincent: 3 articles (01/2016 - 06/2004)
3.	Schwartz, Nicholas U: 2 articles (10/2019 - 01/2018)
4.	Van Den Bosch, Ludo: 2 articles (02/2016 - 06/2004)
5.	Bouhy, Delphine: 2 articles (01/2016 - 07/2013)
6.	De Winter, Vicky: 2 articles (01/2016 - 07/2013)
7.	Hong, Young Bin: 2 articles (01/2016 - 06/2015)
8.	Jung, Sung-Chul: 2 articles (01/2016 - 06/2015)
9.	Woo, So-Youn: 2 articles (01/2016 - 06/2015)
10.	Irobi, Joy: 2 articles (07/2013 - 06/2004)

Drugs and Biologics

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

1.	tubastatin AIBA 02/17/2016 - "Combining structure-based development of HDAC6 inhibitors, screening in N2a cells and in a neuronal model for CMT2F, and preliminary ADMET and pharmacokinetic profiles, resulted in the selection of compound 23d that possesses improved biochemical, functional, and druglike properties compared to tubastatin A. "
2.	Small Heat-Shock ProteinsIBA 01/01/2023 - "Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot-Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). " 07/01/2013 - "Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy. " 11/15/2010 - "Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. " 06/01/2004 - "Here we report a missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in the family with CMT2F. " 01/01/2017 - "Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. "
3.	HSP27 Heat-Shock ProteinsIBA 10/01/2019 - "Although named over 100 years ago, identification of subtypes of Charcot-Marie-Tooth has rapidly expanded in the preceding decades with the advancement of genetic sequencing, including type 2F (CMT2F), due to mutations in heat shock protein 27 (Hsp27). " 01/01/2018 - "One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27). " 12/01/2023 - "Specifically, mutations in the heat shock protein B1 (HSPB1) gene encoding for heat shock protein 27 (Hsp27) have been linked to CMT2F and distal hereditary motor and sensory neuropathy type 2B (dHMSN2B) subtype. "
4.	Proteins (Proteins, Gene)FDA Link 06/19/2015 - "Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors. " 01/01/2016 - "The Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy 2B (dHMN2B) are caused by autosomal dominantly inherited mutations of the heat shock 27 kDa protein 1 (HSPB1) gene and there are no specific therapies available yet. " 01/01/2020 - "Mutations in this protein are known to cause autosomal dominant hereditary distal axonal neuropathies, including Charcot Marie Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). "
5.	Therapeutic UsesIBA 01/01/2016 - "Here, we assessed the potential therapeutic effect of HDAC6 inhibitors on peripheral neuropathy with HSPB1 mutation using in vitro model of motor neurons derived from induced pluripotent stem cells (iPSCs) of CMT2F and dHMN2B patients. "
6.	alpha-Crystallins (alpha-Crystallin)IBA 01/01/2021 - "Both mutations affect the highly conserved alpha-crystallin domain and have been previously described as the cause of severe CMT2F/dHMN, showing a strictly dominant inheritance pattern. "
7.	Prostaglandins DIBA 12/01/2013 - "We performed six cycles of PGD for CMT1A and one cycle for CMT2F. "
8.	Heat-Shock Proteins (Heat-Shock Protein)IBA 12/01/2023 - "Specifically, mutations in the heat shock protein B1 (HSPB1) gene encoding for heat shock protein 27 (Hsp27) have been linked to CMT2F and distal hereditary motor and sensory neuropathy type 2B (dHMSN2B) subtype. "
9.	beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA 12/01/2013 - "For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. "

Therapies and Procedures

1.	Therapeutics 01/01/2016 - "The Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy 2B (dHMN2B) are caused by autosomal dominantly inherited mutations of the heat shock 27 kDa protein 1 (HSPB1) gene and there are no specific therapies available yet. "