Charcot Marie Tooth disease 1F (CMT1F)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 1F (CMT1F). This is caused by mutations in the NEFL gene on chromosome 8p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the NEFL gene on chromosome 8p
- This is also associated with CMT2E
- It is childhood or infantile onset
Main clinical features
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Occasional clinical features
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Nerve conduction studies (NCV)
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Visual evoked potentials
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Acronym
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References
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Shin JS, Chung KW, Cho SY, et al. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet 2008; 53:936-940.
- Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-597.
- Abe A, Numakura C, Saito K, et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 2009; 54:94-97.
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