Charcot Marie Tooth disease 1D (CMT1D)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 1D (CMT1D). This is caused by mutations in the EGR2 gene on chromosome 10q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the EGR2 gene on chromosome 10q
- This is usually very early onset but adult onset cases have been reported
Clinical features
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Severe phenotypes
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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.
- Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998; 18:382-384.
- Briani C, Taioli F, Lucchetta M, Bombardi R, Fabrizi GM. Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. Muscle Nerve 2010; 41:888-889.
- Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2012; 17:206-209.
